Background: Superficial siderosis is a progressively disabling disease caused by recurrent subarachnoid hemorrhage with accumulation of hemosiderin in the surface of the central nervous system. Although a wide variety of conditions may cause superficial siderosis, approximately half of the cases are reported to be associated with a defect in the ventral spinal dura mater, in which case treatment entails surgical repair of the defect. Here, we report a case of superficial siderosis and report on our method to pinpoint the dural defect using a combination of magnetic resonance imaging (MRI) techniques. Methods and Results: A 74-year-old female presented suffering from hearing loss and progressive ataxia over a duration of seven years. A T2-weighted MRI study revealed hypointensity in the superficial areas of the central nervous system, leading to the diagnosis of superficial siderosis, and the presence of a fluid-filled collection in the anterior spinal canal of C7 to T10 suggested that a dural defect was the cause of the repeated hemorrhage. A balanced turbo field echo (BTFE) MRI sequence revealed possible dural defects at T1–T2 and T5–T6, and a dynamic improved motion-sensitized driven-equilibrium steady-state free precession (dynamic iMSDE SSFP) sequence revealed an irregular flow of cerebrospinal fluid through the dura at the T5–T6 level. The dural defect was confirmed and sutured through a minimal T5–T6 laminectomy without neurological consequences, and the patient reported mild improvement in gait one year after surgery. Conclusions: A combination of MRI sequences provided the necessary information to confidently perform minimal surgery to repair the dural defect. We recommend coupling a balanced steady-state free precession (SSFP) sequence to provide high resolution, high contrast images of anatomical structures and a dynamic iMSDE SSFP sequence to confirm cerebrospinal fluid motion through the defect. Superficial siderosis of the central nervous system is an uncommon and often underdiagnosed disorder that is caused by repeated hemorrhages in the subarachnoid space. The bleeding episodes are small and individually asymptomatic, but the repetitive degradation of hemoglobin releases toxic heme into the cerebrospinal fluid (CSF), which chronically leads to deposition of hemosiderin in the subpial layers of the brain, cranial nerves, and spinal cord . The supSince any condition that causes repeated bleeding into the subarachnoid space could lead to superficial siderosis, the listed etiology in the literature is wide-ranging. An epidemiological survey of superficial siderosis in Japan found that duropathy was the leading cause in both men and women, accounting for approximately half of the patients . TherefoThe literature on spinal duropathy associated with superficial siderosis often describe a ventral dural defect, most often in the thoracic spine, with a longitudinally fluid-filled collection in the anterior aspect of the spinal canal. As to how duropathy in the spinal column could cause hemorrhage into the subarachnoid space, two theories have been proposed: the first cites bleeding from the bridging veins on the surface of the cerebellum that rupture due to brain sagging brought about by intracranial hypotension , and theBy stopping the leakage of the CSF and thus the subarachnoid hemorrhage, surgical repair of the dural defect can stabilize the progression of neurological symptoms in most cases and may improve the symptoms associated with CSF hypovolemia . ConsideA 74-year-old female presented to our institute complaining of a floating sensation and difficulty in walking. The symptoms started seven years ago and progressively worsened, with accompanying right-sided hearing impairment from three years ago. Past medical history included mild diabetes, hyperlipidemia, and shingles. Her younger sister suffers from Sjogren syndrome, but her family history was otherwise unremarkable. Physical examinations revealed no cranial nerve function abnormalities and she did not suffer from dysarthria or dysphagia. Mild weakness of her legs was noted bilaterally, but deep tendon reflexes were normal. Fine touch, vibration, and proprioception sensory were all intact. Heel-shin testing revealed dymetria and tandem gait was noted to be unsteady, but she was negative for Romberg. A mild intention tremor was observed. T2-weighted MRI of the head revealed atrophy of the cerebellum and hypointensity in the superficial areas of the central nervous system, suggesting hemosiderin deposition and the possible diagnosis of superficial siderosis. There were no tumors, vascular abnormalities, amyloid angiopathy, or other lesions that could lead to subarachnoid hemorrhage. A standard whole-spine MRI confirmed superficial hypointensity of the entire spinal cord on T2-weighted images and revealed the presence of anterior epidural fluid collection spanning the C7 to T10 levels . A myeloWith the epidural lesion spanning 10 thoracic levels, blind exploratory surgery to search for the dural defect through multilevel laminectomies entails the risk of postoperative instability and kyphosis. In order to examine the integrity of the dura mater in more detail, the C7 to T10 level with the epidural fluid collection was studied using a 1.5-T clinical magnetic resonance scanner . Rapid and high-resolution imaging of the spinal anatomical structures was performed utilizing a balanced turbo field echo (BTFE) sequence with the following parameters: repetition time (TR)/echo time (TE), 7.3/3.6 milliseconds (ms); field of view, 200 mm; matrix, 400; pixel size, 0.5 × 0.5 mm; slice thickness, 0.6 mm; and scan time, 8 min 23 s. Sagittal- and axial-oriented BTFE images revealed a possible gap in the anterior dura mater at the T5–T6 level  along wiIn order to confirm abnormal CSF motion through the dural defect, further analysis was conducted by using a dynamic improved motion-sensitized driven-equilibrium steady-state free precession (dynamic iMSDE SSFP) MRI sequence  with theUnder motor evoked potential (MEP) monitoring, the patient underwent surgery to repair the dural defect. The dura was exposed through a T5, T6 laminectomy, and the dura mater as well as the thickened arachnoid was incised. The spinal cord was carefully retracted and a vertical dural defect measuring approximately 10 mm in cradiocaudal length was visualized in the midline ventral dura at the T5–T6 level a. The riThe patient recovered from anesthesia without any worsening of motor deficits. An MRI taken three months after surgery confirmed the resolution of the anterior fluid collection but the hemosiderin deposition on the surface of the spinal cord was unchanged . One yeaWritten consent was given by the patient to present anonymized images and data in medical conferences and in a published case report.While some studies have attempted conservative treatment through steroids  or iron As a routine test in many facilities performing spine surgery, fluoroscopic myelography followed by CT imaging has been performed in many cases of superficial siderosis, but results were mixed. Similar to our case, the injected contrast medium often diffuses immediately up and down the epidural cavity through the small dural hole, making confident identification of the dural defect contingent on a well-timed dynamic CT scan. Some reports have suggested modified methods to increase the chances of achieving images that pinpoint the lesion location. Ryu et al. reported on a head-down, head-up protocol, which they claim showed a dural defect, but images were not provided . DigitalWith the development of numerous MRI techniques for CSF-cisternography, MRI has now become the diagnostic tool of choice to visualize dural defects. However, the nomenclature for gradient echo sequences by MR manufacturers has made it difficult for clinicians to navigate the various techniques. Egawa et al. described using the Constructive Interference Steady State (CISS) sequence to identify the dural defect in the two cases , and HirIn past MRI studies of the spine, the use of kinematic MRI (cine-MRI) was reported to visualize the motion of CSF through a dural defect into a spinal extradural arachnoid cyst as a pulsating turbulent flow ,20. MoreWhile a number of studies have demonstrated the utility of MRI in identifying the dural defect in superficial siderosis and spinal extradural arachnoid cysts, some of the images provided by past reports have not been completely convincing. We feel that the combination of a BTFE sequence to provide high resolution anatomical information and a dynamic iMSDE SSFP to provide convincing imaging of abnormal CSF motion through the defect provides surgeons with the necessary information to confidently perform surgery to repair the dural defect.In patients with superficial siderosis associated with epidural fluid collection anterior to the spinal cord, pinpointing the exact location of the dural defect is crucial to minimize surgical trauma and avoid instability or kyphosis brought about by multisegmental laminectomies. We recommend that this determination be made through a combination of MRI sequences: a balanced steady-state free precession (SSFP) sequence to provide high resolution, high contrast images of anatomical structures, and a sequence such as dynamic iMSDE SSFP to visualize CSF motion through the defect.


Primary omental torsion is an unusual condition, known for its rarity and for the particularity of being intraoperatively diagnosed, in nearly all cases. At the clinical evaluation, this pathology commonly mimics other etiologies of acute abdomen. Hemoperitoneum and necrosis of the omentum are rarely associated with the omental torsion, but when the association is found, then it means that the vascular injuries are irreversible and the required surgical procedure may be far more complex than simple devolvulus. In search of the treatment of choice, laparoscopy proved its effectiveness as a diagnostic and therapeutic tool, while the open surgery approach can be described in many cases as being too invasive. A 37-year-old female patient presented with the generic symptoms of acute appendicitis. Surgical treatment was initiated. During laparoscopy, the abdomen was attentively explored, highlighting the presence of a twisted omentum with hemoperitoneum and necrosis. Omental excision and peritoneal drainage were performed. The evolution was favorable. Another check-up was done at 6 months postoperatively, displaying no signs or symptoms of relapse. Eitel made the first description of this disease, in 1899. He stated that the omentum, also known as epiploon, twists along its own axis. This mechanism can be the main cause of other physiopathological changes which can range from simple edema to ischemia or necrosis. Nearly 300 cases of greater omentum torsion have been described in the literature [Omental torsion is classified as primary or secondary. The primary torsion of the omentum is due to a mobile, thickened segment which revolves around a fixed, proximal point and appears in the absence of any inflammatory or secondary intraabdominal pathology. Secondary torsion of the omentum implies the existence of underlying pathology and most commonly occurs around two fixed points (bipolar fixation) , 4.It is notable that symptoms fail to prove any specificity. Torsion of the omentum is a rare entity, which often presents itself as an acute abdomen, with clinical findings that resemble symptoms associated with appendicitis.Preoperative diagnosis depends on and is warranted by the characteristic appearance of omental torsion on ultrasound and CT. In most cases, epiploon torsion is an intraoperative surprise. In the absence of a primary laparoscopic approach, laparotomy is needed as a method of surgical treatment.We present the case of a 37-year-old overweight female patient, with no previous records of any health concerns or surgical interventions. The patient presented with abdominal pain of 36-hour duration. Initially, the pain was diffused and mainly located in the mesogastrium but then progressively moved to the right iliac fossa. The pain was accompanied by nausea and two episodes of vomiting. Physical examination of the abdomen revealed tenderness with signs of peritoneal irritation in the right iliac fossa.At the admittance, blood investigations showed leukocytosis with a total leukocyte count of 14 820/mmc, 10,91 neutrophils/mmc, and mild anemia that was indicated by the slightly low values of hemoglobin, 11,8 g/dl, and hematocrit, 36,1% .Clinical and paraclinical investigations indicated the preoperative diagnosis of acute abdomen, raising the suspicion of acute appendicitis. Abdominal ultrasound revealed free fluid filling the pouch of Douglas, without changes that could suggest any other condition than the one initially suspected. Therefore, a CT scan was not performed, as it was not considered a routine test in presumed cases of acute appendicitis. After establishing the diagnosis of acute surgical abdomen, surgery was performed by laparoscopic approach detecting hemoperitoneum (approximately 500 ml hemorrhagic liquid) located in the lesser pelvis, interhepatophrenic, and in the right paracolic gutter.At greater omentum level, a tumor mass with inflammatory changes and a contorted base was found Figures .During the dissection process, extensive hemorrhagic and focal necrosis areas were noticed inside the formation . The patThe resected specimen was removed using an endobag, through the trocar insertion site (10 mm) from the left iliac fossa. In order to remove the omental segment, the incision is required to be enlarged by 2,5 more centimeters. Subsequently, peritoneal lavage and drainage of the Douglas pouch were performed.nd day postoperatively, and after 3 days of hospital stay, the patient was discharged.Drain tubes were suppressed on the 2Histopathology report suggested twisted omental segment measuring 21 × 10 × 4 cm with pieces of hemorrhagic and necrotic tissue. Microscopic examination highlighted adipose tissue consisting of adipocytes with marked infiltrate, hematous in appearance, necrosis, and minimal chronic inflammatory infiltrate. The examined material lacked atypical findings.The follow-up was scheduled with a reassessment at 1 month and 6 months postoperatively that showed a favorable evolution with no further changes or complications.Torsion of the epiploon is a rare clinical event, difficult to diagnose preoperatively because it mimics other causes of acute surgical abdomen. It is frequently confused with acute appendicitis due to clinical resemblance, being remarked in less than 4 per 1,000 cases of presumed appendicitis  –7.Males are more frequently affected (sex ratio 2 : 1). It usually manifests in patients between 20 and 50 years old [The greater omentum develops embryologically from the dorsal mesoderm, and it is made up of four layers that are anchored by the great gastric curvature, transverse colon, and neighboring organs, also passing in front of the small intestines. Its left border continues with a distinct structure, gastrolienal ligament and descends inferiorly with the splenocolic ligament. The blood supply of the greater omentum is provided by the right and left gastroepiploic arteries which traverse its layers.The most commonly reported torsional mechanism is a rotation around the vascular axis represented by the right gastroepiploic artery. The explanation is owed to the greater mobility of the right omental segment compared to the left one, which is well-fixed because of gastrosplenic and splenocolic ligaments –9.The classification criteria divide the epiploon torsion in primary and secondary, respectively, in unipolar and bipolar. In the unipolar torsion, the proximal part is fixed; the rotation occurring around it and the other parts are free and known as “tongues.” The primary torsion is always unipolar. Bipolar torsion involves the existence of two fixed points of the omentum: distal and proximal. The secondary torsion can be both unipolar and bipolar , 11.Having distinguished primary from secondary omental torsion, it remains to distinguish their etiopathogenetic theories. The agents considered as causing secondary omental torsion are represented by preexisting abdominal pathologies such as abdominal tumors, cysts, inflammation, adhesion syndromes, or hernias. The etiopathogenesis of primary torsion is still debatable , 12.A classification into predisposing factors and precipitating factors has been proposed .Obesity, irregular omental pad, abnormal vascular source, bifid or accessory omentum, tongue-like projections, or other anatomical variations are recognised as predisposing factors , 14.Precipitating factors are abdominal trauma, sudden changes in body positions, hypoperistalsis, or binge eating .In a physiopathological manner, the torsion of the proximal omental part initially compromises the venous return causing congestion, inflammation, edema, and hemorrhagic extravasations (hemoperitoneum), leading to arterial ischemia and resulting in tissue necrosis.The symptoms are inconclusive. The most usual symptom is pain in the right iliac fossa or right hypochondrium. Nausea, vomiting, loss of appetite, and fever may appear inconsistently. The occurrence of leukocytosis, a high level of C-reactive protein, and even hyperbilirubinemia, probably through hemolysis mechanisms, are regularly met .Differential diagnoses are acute appendicitis, acute cholecystitis, mesenteric lymphadenitis in children, Meckel's diverticulum, gynecological disorders, perforated ulcer, or acute pancreatitis.Ultrasonography is proved to be useful in guiding the preoperative diagnosis, as it can evidentiate fluid in the peritoneal cavity and less often a hyperechoic solid mass with irregular hypoechoic edges, adhering to the abdominal wall , 16.A CT scan can be more accurate, showing an ovoid mass in the umbilical region or in the right abdomen. The tomographic feature for epiploic torsion is the evidence of a conglomerate consisting of adipose tissue together with a fibrous whirl. The coexistence of the vascular pedicle and the “whirlpool” signs can guide the radiologist toward the diagnosis of epiploon torsion. Nonetheless, omental torsion is not infrequently mistaken for lipoma, liposarcoma, appendicitis, intestinal volvulus, and panniculitis , 18.The potential effectiveness of conservative management with antibiotics and anti-inflammatory medication is controversial, as shown in the surgical literature. Conservative treatment predisposes to local complications, abscesses, adhesion syndromes, or even to the omission of an underlying condition that can be masked by the symptoms and imaging data of an epiploon torsion. It is possible, but unlikely, for omental torsion to resolve spontaneously , 19.Surgical treatment consisting of segmental omentectomy can be performed by the laparotomy or laparoscopic approach. Owing to the rarity of this condition and the lack of specific symptoms that can lead to a mistaken diagnosis, omental torsion can be confused with acute appendicitis. The perfect resemblance between these two entities may be the reason why surgical teams cannot resist the impulse to place the first incision in the right iliac fossa, subsequently performing midline laparotomy.By 2015, less than 300 cases of epiploon torsion were described in the literature, of which 26 were approached laparoscopically , 8, 9.In our attempts to find out the most preferred and rational approach for patients who suffer from omental torsion, we conducted a research from 2015 to 2020, using PubMed and Scholar databases.At the time of this investigation, querying the terms “primary omental torsion,” “omental torsion,” “laparoscopy,” and “laparotomy” returned 23 cases of primary omental torsion between 2015 and 2020. Pediatric cases and those with no relevance to the subject were excluded. No language exclusion criteria were used. The average age of patients with this pathology was 41,5 years with a male predominance revealed by a 3 : 1 sex ratio (M : F = 3 : 1). Right lower quadrant abdominal pain appeared as the main complaint, found in 69,5% of cases.In 17 cases, laparoscopy was the selected surgical procedure and patients underwent laparoscopic omentectomy associated, in 3 of the cases, with laparoscopic appendectomy.In 3 other cases, McBurney's incision was used to proceed with the surgery, which at that time was thought to be an appendectomy. Later on, a midline incision was used for a better exposure of the abdominal cavity. Another 3 cases were primarily approached by open surgery (midline laparotomy). During intraoperative examination, epiploon necrosis was found in 91,3% of cases, accompanied by hemoperitoneum or serohemorrhagic liquid in 4 of these cases. Except for one particular case, which presented fever and postoperative intra-abdominal fluid collection that was conservatively resolved, no further complications were noticed .Unfortunately, it was not possible to find out exactly the duration of hospital stay for each patient. However, considering the average length of hospitalization for open approach in surgery, it is generally believed that those who were subjected to laparoscopy tend to be discharged sooner than those who underwent laparotomy.In addition to the 26 laparoscopically treated cases mentioned in the literature up to 2015, our research identified 17 more cases until the present moment. Without adding the case presented above to the previous ones, we point out that 43 cases of laparoscopically treated primary omental torsion have been described.Laparoscopy is currently the procedure of choice for epiploon torsion. In the vast majority of cases, there is no need for intraoperative conversion to laparotomy because the removal of the resected specimen can be done with a minimum widening of the trocar sites.The attitude towards the appendix is debatable. The only reasonable consideration for proceeding with appendicectomy may be the possibility to exclude appendicitis from the differential diagnosis of an upcoming abdominal condition. However, being given the current situation with no appendicular inflammatory signs, we considered that the correct surgical option should not include appendicectomy.Its role in immune regulation of bacterial flora, as well as its absence correlated with inflammatory bowel disease, affections of the heart, or Parkinson's disease, demonstrates that the vermiform appendix is far from being a purposeless organ –43.Laparoscopy, as an ever-expanding approach, allows diagnostic accuracy, good view of the affected omentum, thus avoiding unnecessary operations, immediate and distant complications of open surgery, and prolonged hospitalization. Also, a better social and professional reintegration might be achieved.Primary torsion of the omentum is a rarely met condition, its symptoms mimicking an acute surgical abdomen. Extensive imaging studies can aid in diagnosis and management and can help with deciding the most appropriate treatment solution. Laparoscopic surgery offers multiple advantages including its minimal invasivity and exhibits higher diagnostic accuracy of the rare forms of acute abdomen. Due to laparoscopy, patients are exempt from the consequences and complications of open surgery.


The Prune-Belly syndrome (PBS) is a rare pathology predominating in male infants, classically manifesting with the triad including aplasia of the abdominal wall muscles, dilatation of the urinary tract, and testicular abnormalities. We report and discuss the case of a full-term male newborn, in whom clinical examination at birth revealed abdominal wall muscle hypoplasia, cryptorchidism, urinary tract dilatation and renal failure. The diagnosis was made based on physical assessment, abdominal ultra-sonographic imaging, and blood sampling of urea and creatinine. For such cases, the recommended surgical management usually consists in a sequential surgical intervention including urinary tract reconstruction, abdominoplasty, and orchidopexy. However, these could not be practiced in due time in our patient, who died on the seventh day of life because of kidney failure. The prognosis of infants with Prune-Belly syndrome may be improved by quality antenatal follow-up, to enable the early diagnosis and preparation for prompt surgical intervention. The Prune-Belly syndrome (PBS) also known as Eagle-barrett syndrome is a rare complex, congenital birth defect characterized by a triad including aplasia or hypoplasia of the abdominal wall muscles, urinary tract abnormalities and bilateral cryptorchidism , 2. Malerd category hospital in Yaounde for a better management of congenital abdominal wall malformation. The mother of the baby was an 18-year-old primipara of Chadian nationality, without a history of chronic pathology, nor consanguinity or inbreeding. The pregnancy was poorly followed-up to a term of 37 weeks of gestation (GA) + 5 days, no infectious risk factor was found and there was not a notion of oligoamnios. Delivery was by vaginal route with cephalic presentation, and adaptation to extra-uterine life was normal with Apgar scores of 8, 10 and 10 respectively at the 1st, 5th, and 10th minutes. Meconium and urine were not emitted immediately after birth. On physical exam, the baby´s hue was normal, the limbs were quadriflexed and reactive.This is the case of an 8-hours-old male neonate infant who was referred from a 3The vital parameters were normal as follows: temperature (T°) = 36.5°C; breathing rate (BR) = 58 Cycle per minutes; the heart rate (HR) = 148 Beats per minute; blood oxygen saturation (SPO2) = 98%. Anthropometric parameters were height = 47cm; head circumference = 35cm; the weight = 2965kg. The conjunctivae and sclera were normal, no facial dysmorphy was noted, and the nasal catheter testing for choanal atresia was negative. The cardio-pulmonary exam was normal. The abdomen was slightly distended, asymetric, with a batrachian-like spread out. The abdominal wall seemed crumpled, especially on the left flank. The intestines could be felt beneath the abdominal skin . The umbThe paraclinical exams done comprised an abdominal ultrasound which showed features in favor of aplasia of the left antero-lateral abdominal muscles, the kidneys had normal topography, sizes , and were well-differentiated. There was however, dilatation of the ureters and pyelocaliectasis, characterizing hydro ureteronephrosis. The kidney function was altered with blood urea = 2.19 g/l, creatinine = 33.0mg/l and a creatinine clearance of 5.88ml/min. The first micturition occurred 50 hours after birth. The mother´s kidney function was rather normal. Further complementary exams such as cardiac and trans-fontanellar doppler ultrasounds, rachis and thoraco-abdominal radiography, as well as abdomino-pelvic computed tomography (CT)-scan in search of other malformations could not be done because of financial limitations.The management consisted in the maintenance of a balanced hydroelectrolytic state, adequate postures, enteral feeding through a nasogatric tube, given the difficulty to put the baby onto the breast, and delayed digestion. The surgical management would have consisted in a sequential intervention comprising: orchidopexy, urinary tract reconstruction and abdominoplasty respectively. However, these could not be practiced in due time, because of renal failure and limited financial resources. The neonate died after 7 days of life.th and the 10th weeks of gestation which could be responsible for a defective urinary tract and abdominal musculature [The Prune-Belly syndrome was first described by Fröhlich in 1839 . Its estculature , 7. A thculature , 7. The et al. with significant incidences of 25% for cardiovascular defects, 24% for gastrointestinal birth defects, 23% for musculo-skeletal defects, 58% for respiratory defects and 15% for genital malformations [The main clinical signs of the PBS are urinary tract malformations including the megavesicle, dilatation, stenosis or atresia of the urethra or ureters, polycystic kidneys, hydronephrosis, and sometimes vesico-ureteral or urethral diverticulum , 2, 11. rmations . Pulmonarmations .Our patient presented cryptorchidism, which occurs in almost all male neonate infant with PBS. Whereas, in female infants, genital malformations mainly involve vaginal atresia, bicornuate uterus and a urogenital sinus. In some few cases, there may be lateralization of various malformations. For example, unilateral aplasia or hypoplasia of abdominal muscles may be associated with ipsilateral defects of other organs systems such as the kidney, the testis or even osteo-articular malformations. This constitutes the Pseudo Prune-Belly syndrome (PPBS) , 5. Our Nevertheless, poorly trained echographists may miss the antenatal diagnosis, as the interpretation is operator-dependent or inaccurately revealed by outdated machines. This may lead to a delay in the diagnosis, and hence unpreparedness for the rapid management after birth. In the postnatal period, the diagnosis is made by an abdominopelvic ultrasound, which, in the best of cases should be accompanied with abdominopelvic CT-scan, trans-thoracic echography, rachis X-ray, karyotype and renal assessments -3, 9. ThThe main treatment of the PBS is by surgical intervention, which consist in a series of operations including the reconstruction of the urinary tract, abdominoplasty and orchidopexy. Nevertheless, a multidisciplinary approach with efficient anesthesia, resuscitation supportive care, and the management of complications is necessary for a favorable outcome , 11, 13.The PBS is a congenital malformation, probably underdiagnosed in our context. The diagnosis was suspected in our patient firstly on clinical examination, which revealed hypoplasia of abdominal wall muscles and cryptorchidism. Then confirmed by abdominal ultrasound. The main causes of death in this pathology being renal failure and pulmonary hypoplasia, it is important that the diagnosis is made early in order to detect potentially fatal complications in time and to realize surgical treatment quickly. We therefore recommend better monitoring of pregnancies, meticulous obstetrical ultrasound for a precise antenatal diagnosis and an improved technical platform especially in our limited-resource context, in order to reduce mortality associated with this disease.


Primary sarcomatoid hepatocellular carcinoma (SHC) is a rare subtype of morphologic hepatocellular carcinoma reported on less than 1% of surgical pathology specimens. Herein, we report a rare case of SHC. The case in question was initially misdiagnosed as a liver abscess due to the clinical and radiological similarity between these 2 pathologies. Ultrasound(US)- and contrast-enhanced ultrasound (CEUS)- guided biopsies are helpful in making an accurate diagnosis under the appropriate biopsy area and angle of puncture.A 56-year old male presented to our hospital with a 2-month history of dull, upper abdominal pain without radiation.Upon initial investigation with computed tomography, a cystic mass was found in the hepatic V segment and an infectious etiology was presumed. Further diagnostic examination with CEUS and magnetic resonance imaging suggested a hepatic abscess. However, a diagnosis of atypical intrahepatic cholangiocarcinoma was not excluded. The patient received the standard antibiotic treatment without alleviation of his symptoms. Through 3 diagnostic US-and CEUS-guided biopsies over a 3-month period, the pathological diagnosis of SHC was finally confirmed.The patient was diagnosed by 3 diagnostic US-and CEUS-guided biopsies, the pathological diagnosis of SHC was finally confirmed.Due to the delay in diagnosis, the patient was not a candidate for surgical resection, and showed dissemination of the lesion to the portal vein. Therefore, treatment with chemotherapy was initiated. After 4 courses of this regimen, tumor progression was found on enhanced magnetic resonance imaging. Therefore, the patient received immunotherapy and targeted therapy with limited response. The patient passed away 3 months later due to tumor progression.A hepatic abscess should be considered as a malignant lesion when clinical symptoms do not resolve upon standard treatment. US- and CEUS- guided biopsies are helpful in making an accurate diagnosis under the appropriate biopsy area and angle of puncture. Primary presentation of malignancy often occurs as a liver abscess and is mainly described in patients with metastatic colorectal cancers, intrahepatic cholangiocarcinoma (ICC) or neuroendocrine tumors.–6 The accurate diagnosis of SHC is very difficult and without timely and reasonable surgical management, tumors could progress rapidly and miss the chance of surgery. To improve the understanding and guide diagnosis for SHC, this case report retrospectively analyzed the misdiagnosis factors of the rare case of SHC.Primary Sarcomatoid hepatocellular carcinoma (SHC) is a rare subtype of morphologic hepatocellular carcinoma (HCC) and is reported on less than 1% of surgical pathology specimens.23/μl with 74% neutrophils, ALT 61 U/L, AST 63 U/L, ALP 176 U/L, and a serum total bilirubin 18.2 μmol/L. Tumor markers were within normal limits with the exception of an SCCA of 1.8ng/mL. Urinary routine and microscopy examination were normal. Blood cultures were sterile. HBsAg and HBeAb were positive.In February 2019, A 56-year old male presented to our hospital with a 2-month history of dull upper abdominal pain without abdominal distention, nausea or vomiting, and an absence of an inciting event prior to onset. Work-up with computed tomography (CT) in local hospital suggested an infectious hepatic lesion in the hepatic V segment. The pain was not alleviated following antibiotic therapy and the patient then presented to our hospital for further treatment. The patient was admitted to the inpatient ward with a space-occupying lesion of the liver. The patient has a medical history of Hepatitis B for 1 year, treated with Lamivudine, 1 tablet a day. The patient does not have a family history of SHC or HCC. Upon physical examination, abdominal tenderness was noted. The exam was negative for rebound tenderness, muscular tension, nausea, vomiting, or fever. There was no history of weight loss, cough, jaundice, pruritus, or any clinical feature of cholangitis. Laboratory studies showed a white blood cell (WBC) 10.1∗10Ultrasound (US) in our hospital revealed a hypoechoic lesion of 5.1  by 4.0 cm in the hepatic V segment with a thick, irregular and shaggy margin. There was no evidence of intrahepatic biliary radical dilatation and the common bile duct appeared normal. Contrast-enhanced ultrasound (CEUS) detected an irregular, thick circular hyper-enhancement with no enhancement in the inner lesion during the arterial phase. Washout of the surrounding tissue around the lesion in early portal phase was observed with showed hypo-enhancement in the venous phase Fig. .3/μl with 79% neutrophils and a total serum bilirubin 23.2 μmol/L. The patient received Sulperazone 2 g twice a day in our hospital. In order to avoid a false negative result on the first biopsy, the second diagnostic biopsy was performed alongside a liver abscess drainage (2019.2.26). CEUS-guided biopsy from the enhanced wall of the lesion and drainage from the abscess cavity revealed a thick, purulent material. A culture of the abscess was sterile and cytology revealed abundant pus only. Pathology studies showed fibrous tissue proliferation with focal acute, and chronic inflammatory invasion with small ductular proliferation and a section of atypical tissue. Immunohistochemistry (IHC) expressed Vimentin with a population of fibroblasts. Based on these diagnostic findings, the patient was treated as a case of a hepatic abscess. After biopsy, the patient reported intermittent fever and was treated with Sulperazone for approximately 10 days. His temperature was normal with a WBC of 11.2∗103/μl after antibiotic and symptomatic therapy. He was discharged from the hospital (2019.3.1) and continued on oral moxifloxacin for about 20 days.Therefore, the first diagnostic, US-guided biopsy was performed (2019.2.22) and revealed hepatic coagulative necrosis and pseudolobuli formation with lobular fibrous tissue hyperplasia and ductular proliferation. Lab values were as follows: WBC 12.3∗10However, 20 days later, he presented to our hospital because of fevers up to 39.4 °C and severe abdominal pain (2019.3.20). Follow-up abdominal US and CEUS found a lesion of 6.7  by 4.7 cm in the hepatic V segment which was larger than on previous investigation. Enhancement was observed in the right portal vein without intra or extra-hepatic biliary extension Fig.  and 6.The patient was not a candidate for surgical resection due to the presence of metastasis. Therefore, treatment with chemotherapy was initiated. The chemotherapy regimen consisting of Albumin paclitaxel  and gemcitabine . After 4 courses of this regimen, tumor progression was found on enhanced MRI (2019.6.14). Therefore, the patient received immunotherapy and targeted therapy that consisting of PD-1  on day 1 and Anlotinib (10 mg po) on day 1 to day 14. The patient dead 3 months later due to tumor progression (September 2019). The flowchart of the patient's treatment process is as followed Fig. .3,7 The etiology of SHC is not clear; some reports have suggested that HCC cases with sarcomatous changes after anticancer therapy such as transcatheter arterial chemoembolization, radiofrequency ablation, or percutaneous ethanol injection may cause the development of SHC, or accelerate the proliferation of sarcomatous cells.,8 Some reports suggest that this uncommon subtype of liver cancer is also associated with hepatitis B and hepatitis C infection. Compared with HCC, the prognosis of SHC is much poorer due to frequent recurrence and metastasis. However, SHC is easily misdiagnosed as ICC and liver abscess, which delays the optimal treatment.SHC is a relatively rare form of malignancy, characterized by features of epithelial and mesenchymal tumors. The fourth edition of WHO tumor classifications suggests that the sarcomatoid component represents a clonal evolution from a differentiated component from HCC or ICC. Laboratory tests usually indicate an inflammatory reaction with increased WBC, erythrocyte sedimentation rate, and C-reactive protein in the liver abscess, which is also present in malignancy with infection and necrosis. Secondary liver abscess formation by SHC may be driven by tumor necrosis and subsequent infection and transformation to an abscess. As far as imaging examination is concerned, peripheral enhancement, and central necrosis are the shared features between SHC and hepatic abscess, complicating the diagnosis of these lesions. Central necrosis and hemorrhage of SHC as the sarcomatoid component consists of rapidly proliferating, poorly differentiated cells that outgrow their vascular supply. The tissue surrounding of the core of necrosis consists of inflammatory cytokines increasing arterial perfusion of the affected area. Therefore, SHC usually presents as a large mass with peripheral enhancement and central necrosis, variable enhancement of the solid portion with or without tumor capsule, and intra- and extra-hepatic metastasis. Alongside thrombosis of small portal and hepatic veins these mechanisms contribute to the observed increases in CEUS enhancement around the core of necrosis with a wash-out of the inflamed parenchyma. According to the findings presented herein, the most notable difference between a hepatic abscess and SHC is in the ring-enhancing part of the lesion, which is thicker in an abscess compared with SHC. Furthermore, hepatic abscesses usually demonstrate liquefactive necrosis in a honeycomb pattern without metastasis while SHC presents as diffuse liquefactive necrosis with metastasis or thrombosis of small portal and hepatic veins.It is difficult to differentiate liver abscess from SHC not only in clinical practice but also on imaging examination. Clinically, shared features between the 2 pathologies include upper right quadrant abdominal pain, persistent fever with or without chills, rigor, nausea, vomiting, diarrhea, and weight loss. The nonspecific findings suggestive of a pyogenic liver abscess therefore delays the diagnosis of malignancy.–12 The boundary of the non-enhanced area in ICC contains abundant fibrous tissue in the core of the tumor. The border between fibrous tissue and peripheral tumor cells is obscured due to the infiltrative tumor growth of cholangiocytes. However, the presence of intratumor vasculature is a defining characteristic of ICC. Despite the sensitivity of this marker, clinical diagnosis in practice is difficult. However, some ancillary findings may serve to differentiate SHC from ICC. In most cases of ICC, capsular retraction, bile duct dilatation distal to the lesion, and vascular encasement are very common. Meanwhile, intra and extra-hepatic metastasis are relatively common in SHC. Additionally an elevated CA19 to 9 with increases of ALP is more common in ICC than SHC, but these values are non-specific to either disease.,10Additionally, it may be difficult to differentiate SHC from ICC by imaging without pathological confirmation. In most ICC cases, an irregular, rim-like hyper-enhancement is seen in the periphery of the lesion with a strip-like enhancement extending to the central portion in arterial phase. These findings are followed by a rapid washout in late arterial phase or early portal phase, and a marked washout in venous phase.In this case-study, a normal level of CA19 to 9 was found. Initial CEUS and enhanced MRI suggested a liver abscess followed by the presence of inflammatory and necrotic cells on guided biopsy. Due to the diagnosis of a hepatic abscess, surgery was not elected for this patient. Upon his second presentation to our hospital due to a fever of 39.4 °C with severe abdominal pain, CEUS suggested an ICC due to the increased mass and portal vein thrombosis. Nevertheless, only the third US-guided biopsy confirmed the diagnosis of SHC according to IHC results, which was positive for both an epithelial marker CK (AE1/AE3) and mesenchymal marker (Vimentin). The potential causes of initial misdiagnosis may be due to the position of the puncture and tumor progression. The pathology of the first biopsy showed necrotic tissue, which is consistent with the necrotic core of the tumor. The second biopsy suggested fibrous proliferation and focal acute inflammatory invasion, consistent with the proliferating rim of the tumor. Aspiration from the abscess cavity revealed thick, purulent material suggesting an inflammatory reaction such as a hepatic abscess. However, the third puncture was obtained from 2 different regions, and revealed the presence of malignant cells. Due to the presence of portal vein metastasis in this case, systemic treatment was the only viable option. However, had a definitive diagnosis been made earlier, surgical resection may have been possible. This case highlights the importance and difficulties in reaching an accurate and timely diagnosis of SHC.The prognosis of SHC is poor with surgical excision being the best option for effective treatment. Currently, the 3-year survival rate is as low as 18.2% after liver resection.4In summary, this study reports a rare case of SHC and the resulting follow-up using CEUS, CT, and MRI. Eventually, SHC was confirmed through 3 diagnostic US-and CEUS-guided biopsies over a 3-month period. Due to the delay in diagnosis, the patient was not a candidate for surgical resection and showed dissemination of the lesion to the portal vein. Therefore, malignancy should always be considered when a hepatic abscess fails to resolve following the standard course of treatment. The specific patient population at risk would include an elderly patient presenting with persistent abdominal pain and intermittent fever with no response to multiple courses of antibiotics. Additionally, US-and CEUS-guided biopsies of multiple areas within the lesion are invaluable in making a timely and accurate diagnosis.We would like to thank Kanlun Xu for his contribution to the review of all the drafts of the manuscript.Conceptualization: Zheng Yang, Yanan Zhao.Data curation: Zheng Yang, Kun Lv, Yanan Zhao.Formal analysis: Kun Lv, Minqiang Pan.Investigation: Zheng Yang, Chao Zhang.Methodology: Yanan Zhao, Shumei WeiProject administration: Yanan Zhao.Resources: Yanan Zhao.Supervision: Kun Lv.Validation: Zheng Yang, Chao Zhang.Visualization: Minqiang Pan, Chao Zhang, Shumei Wei.Writing – original draft: Zheng Yang.Writing – review & editing: Zheng Yang, Yanan Zhao.


The liver is the third most common site of abdominal tumors in children. This review article aims to summarize current evidence surrounding identification and diagnosis of primary hepatic tumors in the pediatric population based upon clinical presentation, epidemiology, and risk factors as well as classical imaging, histopathological, and molecular diagnostic findings. Readers will be able to recognize the features and distinguish between benign and malignant hepatic tumors within different age groups. The liver accounts for 5–6% of all intra-abdominal masses detected in children, with renal being the most common . One-thiHepatic hemangiomas can be divided into congenital and infantile forms. Congenital hepatic hemangiomas (CHH) develop prenatally, are fully grown at birth, and are much more rare, comprising only 3% of all infantile hemangiomas [Infantile hepatic hemangiomas (IHH) are the most common benign vascular tumors in infancy, with a prevalence of 4.5% in term neonates, most commonly in white females . They caFHH may also develop prenatally and be present at birth. In fact, many authors consider FHH to be the same clinical entity as rapidly involuting congenital hemangioma (RICH), as they both stain negative for GLUT-1, unlike other forms of IHH . The clinical course and associated laboratory findings of each infantile subtype is summarized in All subtypes of IHH may present asymptomatically or with abdominal distension and hepatomegaly. CHH and FHH are unique in that they develop prenatally and may cause fetal cardiomegaly with subsequent fetal cardiac failure, hydrops, and cardiac insufficiency. As such, fetal echocardiography is recommended throughout pregnancy if CHH/FHH are suspected. Anemia and thrombocytopenia may occur with CHH/FHH but are typically self-limited . Alpha feto-protein (AFP) is a protein produced by the fetal liver and yolk sack and is initially elevated at birth, then declines to adult values during the first several months of life. As such, AFP will initially be high in the setting of CHH/FHH; however, it should downtrend according to typical physiologic parameters. If AFP is persistently high or rising, an alternative diagnosis such as hepatoblastoma or others should be considered. MHH and DHH can be viewed as a spectrum of disease, with progression from the former to the latter. Most MHH are asymptomatic at presentation and may be identified on routine screening ultrasounds in the setting of cutaneous hemangiomas. If portovenous or arteriovenous shunting is present within MHH, this can lead to high output cardiac heart failure. MHH may progress to a diffuse pattern of involvement (DHH), representing near complete displacement of liver parenchyma, and will frequently manifest with a high morbidity and mortality secondary to massive hepatomegaly, with hepatic failure, compression of surrounding organs and vasculature, and/or abdominal compartment syndrome with subsequent multisystem organ failure ,5,6. In Notably, FHH has no association with infantile cutaneous hemangiomas, as opposed to MHH and DHH, where screening with abdominal ultrasonography is recommended for infants with more than five cutaneous hemangiomas . PrematuFor a suspected hepatic hemangioma present at birth, the main differential is between CHH (RICH/NICH) and IH . Imaging characteristics are particularly helpful with this, as is serial imaging to assess for involution. As discussed above, RICH and focal IH are considered by many to be the same clinical entity and as such have similar imaging characteristics.Ultrasound can be diagnostic of congenital hepatic hemangiomas. They typically have high flow and arterial feeding vessels and may demonstrate direct shunts to the hepatic veins. If hemorrhage and thrombosis occur secondary to the shift from fetal circulation, a central hypodensity may be visualized. It is recommended that an echocardiogram also be performed if shunting is present on ultrasound or if the patient presents with any signs/symptoms of congestive heart failure . On MRI If RICH and NICH are difficult to distinguish based upon initial imaging, serial follow-up imaging will aid in diagnosis, with a subsequent decrease in the size of the lesion suggestive of RICH as opposed to NICH . It is rMultifocal hepatic hemangiomas appear as multiple, discrete masses that are hypoechoic or have mixed echogenicity on ultrasound . On MRI,Diffuse hepatic hemangiomas present with innumerable centripetally enhancing lesions that almost completely replace the normal hepatic parenchyma. These lesions are hypointense on T1-weighted imaging and have a prominent flow void on T2 imaging .Contrast-enhanced ultrasound (CEUS) is a new imaging modality without exposure to radiation or need for sedation. On CEUS, IHH have a characteristic rapid filling phase of the hemangioma, which is typically completed at the end of the arterial phase or by the beginning of the venous phase. It classically will appear iso-enhanced or mildly hyper-enhanced in comparison to normal surrounding liver parenchyma . The largest histologic distinction between these tumor types is based upon immunohistochemical staining for GLUT-1. Congenital hepatic hemangiomas and focal hepatic hemangiomas are negative for GLUT-1, whereas multifocal and diffuse hepatic hemangiomas are positive . NICH is composed of large lobules of small vessels with intervening fibrosis. The basement membrane is thinner than seen in RICH. RICH typically has larger vessels and lobules of varying sizes. Grossly, FHH is a large tumor characterized by central necrosis, hemorrhage, and/or fibrosis. MHH are small tumors with no central necrosis, and DHH characteristically replace the normal liver parenchyma. IHH are similar histologically to CHH, with a fibrous stroma interposed by thin vascular channels lined with endothelial cells  Figure .Mesenchymal hamartoma (MH) is a benign tumor that was first described by Edmondson in 1956 . The majThe clinical presentation of MH differs based upon age of the patient as well as tumor size. Approximately 15% to 20% of MH present in the neonatal period and may be identified prenatally on ultrasound ,22. AlthChildren with Beckwith–Wiedemann Syndrome (BWS) are at a higher risk of developing several types of tumors, including mesenchymal hamartomas ,26,27. OIn MH, cystic or solid components may predominate. In some cases, cysts may be very small and appear as solid components on ultrasound. Typically, solid tumors are more common at younger ages and are smaller overall . Most frGrossly, cut sections will reveal multiple variably sized cysts with clear or pale yellow serous fluid and or mucoid material. Histologically, they are made up of both epithelial and mesenchymal components. Classically, there will be clusters of normal hepatocytes and architecturally normal bile ducts within a primitive matrix of loose mesenchyme ,18 Figu. ImmunohHepatoblastoma (HB) is a tumor of embryonal origin and is the most common primary liver malignancy of children. The incidence is estimated to be 0.5–1.5 cases per million children between birth to age fourteen, most commonly presenting below the age of four . CongeniClinically, neonatal HB tends to present with acute onset of increased abdominal distension and a palpable abdominal mass with resultant respiratory distress and clinical decompensation within the first days to weeks of life ,36,37. DAFP is commonly used as a tumor marker for screening and diagnosis of HB, as it is elevated in approximately 90% of patients; however, this screening marker is neither sensitive nor specific for HB and is commonly elevated in other malignant liver tumors. In small cell type HB, AFP may not rise due to decreased differentiation of cells, but in more advanced and differentiated types of HB such as fetal HB, AFP is usually elevated ,37. PatiHB is associated with Beckwith–Wiedemann Syndrome, trisomy 18, hemihypertrophy, and intestinal polyposis . It is wCongenital HB may be identified prenatally by maternal ultrasounds in the early third trimester and typically present as a single, solid, and well-circumscribed echogenic lesion . PregnanHB can be subcategorized based on their histopathology, summarized in Immunohistochemistry can be useful in clarifying histologic subtype in difficult or post-therapy cases. The most common stains are alpha feto-protein, glypican 3, β-catenin, glutamine synthetase, and INI-1. Glypican-3 demonstrates a fine granular cytoplasmic staining pattern unique to the well-differentiated fetal pattern of HB. Β-catenin is a marker of the activated canonical Wnt pathways (thought to be a key driver in the development of HB) and is helpful as only neoplastic tissue demonstrates diffuse cytoplasmic expression without nuclear staining, allowing neoplastic tissues to be differentiated from normal hepatocytes and biliary epithelial cells, which show only membranous staining. Glutamine synthetase, another marker for the activated Wnt pathways, is expressed with high intensity in fetal hepatoblastoma. Pure small cell HB retains INI-1 expression, which allows for differentiation from malignant rhabdoid tumor, which is very similar histologically .Malignant rhabdoid tumors (MRT) were first described in the kidney in 1982 by Beckwith and Palmer as a variant of Wilms’ tumor  and wereHepatic MRT frequently presents with fever, abdominal distension, abdominal pain, decreased oral intake, and emesis associated with a right upper quadrant mass or hepatomegaly ,56,57,58Initial imaging with ultrasound most commonly reveals a heterogenous solid mass, which may have cystic components ,56,60,61Classically, the histologic identification of MRT is dependent on the presence of rhabdoid cells: large polygonal cells with eccentric vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm . HoweverPediatric hepatic angiosarcoma is an extremely rare malignant vascular tumor that may occur at any time during the neonatal period up until adolescence, accounting for 0.3% to 2.5% of liver tumors in children ,63,64. TIn the neonatal and infantile period, these tumors present with rapid onset abdominal distension secondary to hepatomegaly, which may lead to abdominal compartment syndrome ,79. McClEnvironmental exposures, such as vinyl chloride, causing hepatic angiosarcoma are frequently reported in adults ; howeverTo date, there have been no classic imaging findings reported that could allow for pre-biopsy diagnosis of hepatic angiosarcoma in pediatrics. In case reports, angiosarcoma has imaging findings typical of many other vascular lesions of the liver. Ultrasound may reveal a mixture of hypoechoic and hyperechoic regions reflective of areas of necrosis and hemorrhage . Large fDefinitive diagnosis of hepatic angiosarcoma is made based on histopathology. It is imperative that histopathologic examination is performed on an adequate sample of tissue that is representative of the tumor as a whole, preferably obtained during resection, as malignancy may be present focally in the background of a benign hemangioma ,88. HistHepatocellular adenomas (HCA) are rare benign tumors arising from hepatocytes. HCA comprise less than 5% of all pediatric liver tumors and typically occur in adolescence with a mean age of diagnosis around 14 years old ,92. TherClinically, most HCA are discovered incidentally but, if symptomatic, present with abdominal pain as the chief complaint. The major clinical complication associated with HCA is rupture and subsequent intratumoral or intraperitoneal hemorrhage, described in approximately 25% of cases across all age groups and most commonly associated with the inflammatory subtype . In addiIn pediatrics, HCA may occur spontaneously; however, they most commonly occur in association with a known risk factor or predisposing condition summarized in The association between estrogen exposure and development of HCA is well established, but the pathogenesis is poorly understood. HCA are more common in women and obese men, secondary to peripheral production of estrogen from adipose tissue, and are associated with high potency combined estrogen/progestin oral contraceptives ,100. NorHCA is also associated with glycogen storage diseases. Glycogen storage disease type 1 (GSD1) is an autosomal recessive disorder of metabolism-causing defects in endogenous glucose synthesis. Type 1a (GSD1a) is characterized by deficiency in glucose-6-phosphatase catalytic activity leading to impaired glycogenolysis and gluconeogenesis. Glucose-6-phospahte is shunted into other metabolic pathways, causing hypertriglyceridemia, hyperlactatemia, and hyperuricemia. The current treatment involves dietary therapy with uncooked cornstarch . HepaticCongenital extrahepatic portosystemic shunts are a predisposing risk factor for development of HCA. Multiple theories surrounding pathogenesis of HCA in this context have been proposed. It is theorized that development of HCA is related to the anomalous blood supply characterized by excessive arterialization with resultant increased oxygen delivery to hepatic tissue. In addition, alterations in blood supply to the liver with diversion of splanchnic blood flow may result in abnormal composition of hepatotrophic substances such as insulin and estrogen, which have been clearly linked to development of HCA . SupportAdult survivors of childhood and young adult cancer are at risk for development of hepatic adenomas. A case series of twelve patients found that female gender, history of stem cell transplant, hormone replacement therapy, and total body irradiation were associated with development of HCA. These tended to be large, multiple, and primarily of the inflammatory subtype .Ultrasound is typically the first line imaging tool utilized in children with a suspected liver mass and as a screening tool in patients with known risk factors; however, it can frequently miss small isoechoic nodules or those within a background of steatosis. HCA are classically described as heterogenous, well-delineated solid masses. On MRI, HCA are commonly heterogeneous on T1- and T2-weighted images, with a high signal on T2-weighted images. Early enhancement is typically seen with IV contrast administration, and a pseudo-capsule can be observed on delayed acquisition images. Early washout after early enhancement in the arterial phase with IV contrast is suggestive of malignant transformation to HCC . On contGrossly, HCA are soft, well-demarcated tumors with minimal to no fibrous capsule present. HCA are composed of normal-sized hepatocytes arranged in mildly thickened or irregular liver cell plates with a parenchyma supplied by numerous arteries unaccompanied by bile ducts or other portal tract elements . CytoplaFocal nodular hyperplasia (FNH) is the second most common benign liver tumor in pediatrics, with an estimated incidence of 0.02% in childhood, comprising 2–4% of all pediatric liver tumors ,111,112.Clinically, these patients are usually asymptomatic, and FNH is found incidentally. If symptomatic, the most common presentation is abdominal pain, followed by distension and a palpable abdominal mass. Rupture, hemorrhage, and necrosis is extremely uncommon; however, if large enough, FNH can cause mass effects resulting in portal hypertension and compression of surrounding structures . AFP is It is well reported that survivors of childhood cancers—specifically, extrahepatic solid tumors such as Wilms’ tumor and neuroblastoma, as well as hematopoietic stem cell transplant (HSCT) recipients—are at increased risk of development of FNH. It is estimated that the incidence within this specific population is between 5% and 12% . The meaChildren with underlying liver diseases, in particular extrahepatic congenital portosystemic shunts and biliary atresia, are also at high risk of development of FNH. Congenital and surgical portosystemic shunts lead to diversion of intestinal blood to the systemic circulation, bypassing the liver. The precise mechanism is unknown but postulated to be secondary to vascularization of the liver by a large anomalous artery, reactive hyperplasia after hepatocellular injury secondary to vasculitis, or higher blood flow as compared to surrounding areas ,118. PatFNH is quite distinctive radiologically and may be diagnosed solely on imaging findings. Ultrasound is nonspecific but will reveal a homogeneous well-circumscribed lesion which may be isoechoic, hyperechoic, or hypoechoic. Contrast-enhanced ultrasound (CEUS) is an imaging modality that allows detailed characterization of vascular patterns and is mostly useful in lesions greater than three centimeters. Typical findings of FNH on CEUS include sequential centrifugal filling with hyperenhancement on the early portal venous phase and isoenhancement or hyperenhancement on the later portal venous phase. A spoke-wheel appearance of the central arteries and a central scar may also be seen . On CT sPatients with a history of malignancy or underlying liver disease who develop FNH are significantly more likely to have uncommon imaging findings, including multiple lesions that on average are smaller than those in patients without a history of malignancy, as well lesions that demonstrate absence of central scarring ,119. TheGrossly, FNH is typically a well-circumscribed solitary nodular lesion. FNH is composed of a proliferation of bile ducts and a central stellate scar that contains abnormally formed blood vessels . HistoloHepatocellular carcinoma (HCC) is the second most common liver cancer in children  and constitutes 0.3–0.5% of all pediatric malignancies ,124. TheMost commonly, HCC presents with an abdominal mass and pain, which may be referred to the back and shoulder, as well as cachexia and jaundice in later stages of disease . The livAFP, as discussed previously, is an extremely common marker of several hepatic malignancies. Therefore, this marker is useful in surveillance of patients with known cirrhosis or predisposing conditions, as its sensitivity within that group is high, and higher AFP levels at time of diagnosis are seen in patients with higher fatality rates . HoweverThe primary etiology of HCC in endemic areas is hepatitis B (HBV) infection, most frequently acquired congenitally. There is a bimodal age distribution in these patients, with a peak at approximately one year of age and another in adolescence at around 12 to 15 years of age, as well as a male predominance after the age of four . Not surHereditary tyrosinemia is an autosomal recessive metabolic disorder characterized by lack of fumarylacetoacetate hydrolase, an enzyme that is integral for the breakdown of tyrosine. Loss of this enzyme leads to abnormal accumulation of tyrosine, and its toxic metabolites in the liver lead to hepatotoxicity and increased risk of development of HCC . In addiHepatic fibrosis and HCC are known complications of patients who have undergone Fontan procedures as children, secondary to hepatic congestion and low cardiac output ,138. TenProgressive familial intrahepatic cholestasis (PFIC) is a group of disorders known to cause chronic liver disease in children. There are four subtypes, types 1 through 4, each with different genetic mutations. PFIC-2 is characterized by impairment of bile flow secondary to deficiency of the ABCB11 gene, which encodes the bile salt export pump protein leading to constant exposure of hepatocytes to bile salts and results in chronic inflammation with increased risk of carcinogenesis . NotorioHCC in the setting of glycogen storage disorders arises from malignant transformation of hepatic adenomas, as opposed to de novo mutations. This occurs most commonly in GSD Type 1a (glucose-6-phosphatase deficiency) in the second to third decade of life . The incBiliary atresia, an obstructive cholangiopathy presenting in the neonatal period, is one of the most common causes of chronic liver disease in children. Treatment is mostly surgical, most commonly with the Kasai portoenterostomy. It is estimated that 1% of children with biliary atresia will experience malignant transformation at some point in their lives, occurring as early as infancy. The identification of HCC can be difficult in patients who have undergone the Kasai procedure, as it often causes dominant regenerative areas that may become large and nodular, similar to HCC. As with other chronic liver diseases, these patients are recommended to undergo serial monitoring with AFP levels and ultrasonography to monitor for occurrence of new focal lesions .There are rare case reports of pediatric HCC associated with Budd–Chiari and alpha-1 anti-trypsin disorder, although these much more often develop during adulthood rather than in childhood or adolescence ,145. FroFL-HCC has been associated with Byler’s disease, hereditary hemochromatosis, tyrosinemia, PFIC, and alpha-1 antitryspsin deficiency .Ultrasound is most commonly the first-line imaging for patients with a suspected abdominal mass and is used for periodic screening in high-risk groups. HCC is classically described as a heterogenous hyperechoic mass with increased vascularity . Tumor dAs discussed earlier, AFP is not typically elevated in FL-HCC; therefore, identification of classical imaging findings becomes paramount. A potentially catastrophic misdiagnosis would be that of FNH as opposed to FL-HCC. On MRI, both are characterized by subtle deviations of signal intensity in comparison to the background liver parenchyma on precontrast T1- and T2-weighted images with arterial hyperenhancement and the presence of a central scar. FL-HCC however, demonstrates greater heterogeneity of texture within the lesion secondary to necrosis and hemorrhage. The central scar is hypointense in T2-weight images, and FL-HCC demonstrates portal venous hypoenhancement. Calcification is more consistent with FL-HCC but may not be reliably identified on MRI ,151.Conventional HCC demonstrates tumor cells that resemble normal hepatocytes with various degrees of cytologic and architectural atypia and are accordingly classified as well-, moderately, or poorly differentiated. The tumor cells contain abundant eosinophilic cytoplasm with nuclei that are centrally located and irregular with abundant mitoses . Figure These tuThose specimens that do not show conventional histology are divided into further subtypes. Given the histopathologic heterogeneity of HCC, only about 35% of all HCCs are able to be further classified into histopathologic variants. These include fibrolamellar, steatohepatic, clear cell, macrotrabecular-massive, scirrhous, chromophobe, neutrophil rich, and lymphocyte rich . Fibrolamellar HCC is a rare subtype, accounting for approximately 1% of all HCC, although it is more commonly seen in children and adolescents than in adults . InitialImmunohistochemistry demonstrates reactivity to traditional markers of neoplastic hepatocellular differentiation, including HepPar-1 and glypican-3. FL-HCC demonstrates expression of cytokeratin 7, unlike conventional HCC. Unlike HB, HCC generally does not show nuclear expression of β-catenin .Undifferentiated embryonal sarcoma of the liver (UESL) is an aggressive tumor of mesenchymal origin that was first described by Stocker and Ishak in 1978 . ClassicThe presentation is nonspecific, with abdominal pain, hepatomegaly, nausea, anorexia, and fever, and is rarely associated with jaundice ,162,163.Echinococcus, Entameoba histolytica, and histoplasmosis secondary to molecular mimicry [Echinococcus [No distinctive laboratory findings have been reported for UESL. Patients may present with mild leukocytosis or leukopenia, anemia, hypoalbuminemia, mildly elevated transaminases, and inflammatory markers ,163,167. mimicry . Zhang enococcus . Paraneonococcus ,170.To date, there are no known associations between any tumor predisposition syndrome and UESL . Some reImaging can serve as a valuable diagnostic clue for UESL. UESL will appear as a solid, predominantly hyperechoic mass with focal anechoic areas and cystic portions on ultrasound. CT will reveal a single, well-demarcated, predominantly hypoattenuated cystic mass with internal septations. A crucial diagnostic clue for UESL is the discrepancy between the solid appearance on ultrasound and the cystic appearance on CT imaging, likely secondary to the high water content of the prominent myxoid stroma. In addition, the presence of serpiginous vessels within the tumor on CT imaging is proposed to be unique to UESL. MRI, which is the preferred imaging modality for preoperative planning due to its ability to detect vascular invasion, biliary obstruction, and hilar adneopathy, will demonstrate a well-demarcated mass with T2 hyperintensity and T1 hypointensity ,164,166.Diagnosis relies on postoperative pathologic examination. Grossly, the lesion is typically a large (≥10 cm), spherical, solitary lesion that most often arises from the right lobe of the liver ,162. UESHistologically, UESL will have hypercellular sheets of highly pleomorphic tumor cells with a myxoid background . This tuImmunohistochemical stains are nonspecific and nondiagnostic for UESL, although they can aid in exclusion of other tumors within the differential ,163,165.The differential diagnosis for intra-abdominal and liver masses in the pediatric population is broad. Familiarity with characteristics unique to each specific tumor as well as potential clinical complications will aid the clinician in raising the index of suspicion and guide selection of appropriate imaging and laboratory evaluations prior to definitive histopathologic diagnosis. As described above, defining characteristics unique to specific tumors have been recognized and delineated for a number of pediatric hepatic tumors. However, in less common tumors, the majority of evidence is based upon case series and case reports, and further research is needed in these areas in order to provide guidance on appropriate diagnostic tools and management strategies. We believe that this review article provides fundamental information for the clinician regarding age-specific differential diagnoses, appropriate imaging, and laboratory tests, and unique histopathological findings in liver tumors in children. Ultimately, utilization of the appropriate diagnostic modalities together with a multidisciplinary approach of specialists will ensure accurate diagnosis and proper treatment of these tumors.


Although uncommon, neoplasms of the appendix do exist. The two most common types are neuroendocrine tumors and mucinous appendiceal neoplasms.In two patients unusual gross and microscopic findings in an appendectomy specimen were recorded. Special immunocytochemistry studies were used to determine the histologic type of the tumors in the appendix.The clinical features and histopathology of two patients who had both a neuroendocrine tumor and a low grade appendiceal mucinous neoplasm in the same appendectomy specimen were described. Possibilities for the causation and treatment of this unusual condition were discussed. The incidence of this double malignancy was estimated at 2.5 in 1000 appendectomy specimens.Although extremely unusual, a neuroendocrine tumor and a mucinous appendiceal neoplasm can exist in the same appendix. This condition is reported in two young patients. However, malignancy can occur. In a study of the Surveillance, Epidemiology and End-Results (SEER) database showed the annual incidence of primary appendiceal cancer was 0.12/1,000,000 . Finding2www.researchregistry.com website with UIN 5087.Data on these two patients was prospectively recorded and then retrospectively reviewed at academic institutions. This research work has been reported in line with the SCARE criteria . This st33.1In June 2013, a 39-year-old woman noted right lower quadrant pain. This persisted and became localized in September of 2013 on the right side of the abdomen. A colonoscopy and upper GI endoscopy were negative except for H. pylori which was treated.In October 2013, an ultrasound showed a mucocele of the appendix with septations. The diameter of the appendix was 2.3 cm and ascites was present in the right paracolic sulcus. The ovaries appeared normal and there was no fluid between liver and undersurface of the right hemidiaphragm.On November 13, 2013, a diagnostic laparoscopy was performed and converted to an open right hemicolectomy. Extensive mucus was present within the right paracolic gutter and right side of the pelvis. Pathology report on the resected right colon showed a primary low grade appendiceal mucinous neoplasm which was ruptured with extrusion of mucin into the periappendiceal region. The surface of the small bowel showed foci of mucin and aggregates of epithelial cells consistent with a low grade mucinous neoplasm. The mucinous appendiceal neoplasm was considered to be at high risk for recurrence. Twenty-eight regional lymph nodes showed no evidence of metastatic carcinoma. Tumor stage for the mucinous appendiceal tumor was PT3N0M1a.A second primary tumor was present within the appendiceal specimen. The was a “conventional neuroendocrine tumor, 1.7 cm in diameter”. The tumor stage for the neuroendocrine tumor was PT1BN0.On April 10, 2015, the patient was again taken to the operating room for exploratory laparotomy. Mucin was present on the undersurface of the right hemidiaphragm, in and along the falciform ligament, and in the right paracolic sulcus. Procedures performed included a greater omentectomy, lesser omentectomy, cholecystectomy, hysterectomy and bilateral salpingo-oophorectomy . HyperthEleven separate specimens were submitted from the operating room to the pathologist. All specimens showed mucin aggregates and fibrosis. Pathology was thought to be consistent with disseminated peritoneal adenomucinosis with predominantly mucin escaped from the ruptured appendix into the free peritoneal cavity . In Dece3.2A 32-year-old male patient underwent left inguinal hernia repair. During the surgery, the surgeon noticed mucin in the hernia sac which was submitted for histopathology. Histopathologic examination showed fibro-fatty tissue with accumulation of mucin. Patient underwent CT showing a "mucocele" of the appendix and fluid in the right paracolic gutter. Colonoscopy was then performed showing a tumor mass invading the cecum. Patient was referred to a peritoneal surface malignancy center.On January 26, 2018 the patient underwent laparoscopy. Large mucin deposits were seen on the right hemidiaphragm, left upper quadrant and pelvis with a large tumor mass in the right lower quadrant of the abdomen. Peritoneal cancer index was 16 . A decisVisceral resections were right colon, greater and lesser omentum, and gallbladder. Peritonectomy procedures were right subphrenic, left subphrenic, omental bursa, parietal and pelvic peritonectomies . SeveralA second primary well differentiated neuroendocrine tumor was present within the appendectomy specimen. Is showed Ki67 of 5 %. The neuroendocrine tumor was G2T2N1MX. Two of the 16 lymph nodes were involved by tumor. The patient underwent DOTATATE-Ga-68 scan showing no evidence of residual or metastatic disease. Chromogranin A and 5-HIAA were in the normal range postoperatively. The patient is being followed at 3-months intervals. He is fully active without evidence of disease recurrence in December of 2019.3.3If the incidence of carcinoid of the appendix is estimated at 0.5 % of appendectomy specimens and the incidence of a mucinous neoplasm of the appendix is 0.5 %. The incidence of both tumors in the same appendix may be estimated at 0.25 % or 2.5 in 1000 appendectomy specimens.44.1The incidence of appendiceal neoplasm is estimated at 1 % the incidence of colon and rectal cancer . However4.2A single specimen showing a double appendiceal neoplasm in Washington, DC occurred in a database of 1240 patients with epithelial appendiceal malignancies. However, since these patients were often referred after appendectomy that established the diagnosis of appendiceal neoplasm, this does not provide an incidence for a double neoplasm. It may be more common that is generally thought but pathologists have not found it necessary to establish the incidence of a double appendiceal neoplasm.4.3Neoplasm of the vermiform appendix are rare and therefore, treatment is mainly based on retrospective data, personal experience and extrapolation from colorectal cancer data. Since there are several types of appendiceal neoplasms, it is important to plan the treatment according to the underlying histology. The occurrence of two distinct primary tumors of different origin  is extremely rare. It was described once before in a case report . Therefo4.4In neuroendocrine tumors of the appendix, larger than 20 mm, tumors invading the meso-appendix or tumors with lymphovascular invasion are at higher risk for lymph node metastasis. Therefore, right hemicolectomy has been recommended and is usually performed . HoweverWhen diagnosis of both primary neuroendocrine tumor and primary mucinous appendiceal tumor is known before surgery, treatment can be planned. However, in many patients, the cross-sectional imaging shows the mucocele of the appendix but not the neuroendocrine tumor. This is revealed only in the final pathology. In case of low grade appendiceal neoplasm, there is a low risk for lymph node metastasis . Appende4.5It is important to distinguish two primary tumors in the same appendectomy specimen from the combination of neuroendocrine tumor and mucin producing neoplasms of appendix in a single tumor known as goblet-cell carcinoid . This tuHowever, similarities in the patterns of dissemination exist when the two primary appendiceal tumors are compared to the goblet cell carcinoid. In our two patients and the single patient reported by Hajjar et al., dissemination to peritoneal surfaces of the epithelial tumor was the metastatic disease . The neuIn summary, we describe two patients presenting with both a primary neuroendocrine tumor and a primary mucinous appendiceal tumor in the same appendectomy specimen successfully treated by cytoreductive surgery and HIPEC. It is extremely difficult to draw conclusions form two cases but with accumulating experience in high-volume centers, guidelines for treatment of these patients may be suggested. Until then, we recommend treatment of these patients with cytoreductive surgery and HIPEC in an experienced center.Data management and secretarial support provided by Foundation for Applied Research in Gastrointestinal Oncology.Local IRB-approval for this case report was not required:does not meet the DHHS definition of research (45 CFR 46.102(d)(pre-2018)/45 CFR 46.102(l)(1/19/2017)) or the FDA definition of clinical investigation (21 CFR 46.102(c)) and therefore are not subject to IRB review requirements and do not require IRB approval.MedStar Health Institutional Review Board has determined that a case report of less than three (3) patients This case report is of 2 patients.Written and signed consents were obtained from the patients.Paul H. Sugarbaker, MD: study concept or design, data collection, data analysis or interpretation, writing the paperAlmog Ben-Yaacov, MD: study concept or design, data collection, data analysis or interpretation, writing the paperDavid Hazzan, MD: study concept or design, data collection, data analysis or interpretation, writing the paperAviram Nissan, MD: study concept or design, data collection, data analysis or interpretation, writing the paperwww.researchregistry.com website with UIN 5087.This study was registered as a case report on the Paul H. Sugarbaker, MDNot commissioned, externally peer-reviewedPaul H. Sugarbaker has no conflicts of interest to declare.


Gastric trichobezoar happens when there is an indigestible substance or food found in the gastrointestinal tract. It is a rare presentation which is usually associated with trichotillomania and trichopagia. The presentation may not be specific and is usually related to dyspepsia-like symptoms. In the worst-case scenario, this may cause gastric outlet or intestinal obstruction which eventually requires surgery.We present a 36-year-old lady with underlying end-stage renal failure (ESRF) and undiagnosed mental health issues who was treated for recurrent episodes of gastritis. Imaging modalities revealed intragastric foreign body ingestion which is consistent with gastric trichobezoar. She eventually underwent laparotomy and gastrotomy to remove the foreign body. Postoperatively, she was referred and followed-up by the psychiatric team.Gastric trichobezoar has strong associations with psychiatric disorders. With the co-existence of an ESRF, uraemia might contribute to the aetiology of the trichotillomania and trichophagia. Open surgery is the choice of definitive management especially if bezoars are larger. Should the recurrence be remitted, a biopsychosocial modality and regular haemodialysis is the most sustainable approach to ensure the behaviour does not persist. •Depressive symptoms with concomitant end-stage renal failure might contribute to the occurrence of the trichotillomania and trichophagia, leading to gastric trichobezoar.•Surgery is the mainstay of treatment in trichobezoar with complications.•Referral to psychiatry is mandatory in addition to continuous medical treatment in patients with trichobezoar. It can 2A 36-year-old Maldivian female was evaluated under the Department of Internal Medicine for heartburn, bloating and abdominal pain. She claimed to have occasional epigastric pain which was presumed to be gastritis and hence was managed with medication. The bloating sensation had started a few months prior and occasionally was associated with vague crampy abdominal pain. There was no specific aggravating or relieving factors. She had early satiety for the past few weeks. There were no altered bowel habits and constitutional symptoms. She had no family history of malignancy.She has an underlying ESRF on regular dialysis. There was no history of previous surgery except for arteriovenous fistula. However, on further probing, she revealed that she always felt stressed, and had a history of depressive symptoms which had not been properly diagnosed or treated. She further admitted to having a tendency of pulling out (trichotillomania) and eating her own hair (trichophagia). General examination was unremarkable. She was well built with no signs of dehydration or anaemia. Abdominal examination revealed a hard, well defined and mobile epigastric mass. There was tenderness but no guarding or rigidity elicited. The succussion splash was negative. The bowel sounds were audible.Laboratory investigations were within normal limits except for raised urea and creatinine owing to the ESRF. Her renal profile was elevated with serum urea was 72.76  and creatinine was 6.38 . Plain abdominal radiograph  showed aShe was preceded for exploratory laparotomy with gastrotomy and removal of the trichobezoar. The mass was removed en bloc. It weighed 720 gm . Postope3“Bezoar” is etymologically derived from the Arabic “bedzher” or “bezehr” which dates from 2000 years ago, meaning antidote or counter-poison. Historically, it was described as a greenish hard mass found inside the stomach of Syrian goats, which was believed to be a treatment of poison . TrichobSometimes it is difficult to diagnose trichobezoar because of the non-specific symptoms. Younger age groups such as paediatric patients are usually thought to have acute gastroenteritis or parasitic infection which is treated conservatively . While iImaging modalities help in establishing the diagnosis. Simple imaging such as abdominal radiograph can reveal a soft tissue density outlining the stomach or a J-shaped distended stomach with air-fluid level seen in the second part of duodenum. Ultrasound shows an echogenic curvilinear mobile shadow in the stomach with dense posterior acoustic shadow . While CApproach for definitive treatment depends on location, consistency and size of trichobezoar. This may include extracorporeal wave lithotripsy, laser ignited mini-explosive technique, intragastric enzymes administration , metoclopramide, acetylcysteine, and endoscopic removal . EndoscoOnce the patient is stable, if indicated, referral to a psychiatrist is important as the bezoar will otherwise recur. The trichotillomania can be the pathology proper or can be the tip of the iceberg of other psychiatric pathology including depressive or anxiety disorder, eating disorders, or more rarely, frank psychosis. Hence, trichotillomania should not be seen as an end, but rather, a means, and underlying psychosocial issues must be teased out gently. This is because correction of the psychiatric illness itself will not suffice if the social issues that predispose or precipitate the hair-eating behaviour are not attended to holistically. For the treatment of the underlying psychiatric issue, given the complexity of trichotillomania presentations, a biopsychosocial integrated model is preferred, with behavioural therapy, other forms of psychotherapy, and antidepressant or antipsychotic medications best combined to attain recovery . The effIn conclusion, gastric trichobezoar is a rare form of medical illness that can lead to gastric outlet obstruction and chronic gastritis especially among ESRF patients. Due to its rarity, thorough history taking focusing on social, medical and sometimes psychiatric symptoms is very important to elicit the association of this illness. Abdominal radiograph and CT scan are helpful in establishing a definitive diagnosis which mandates surgical removal of the trichobezoars. Follow-up not only focuses on post-operative care solely but also concerns on psychiatry referral and routine haemodialysis, which may indirectly prevent a recurrence.Not related as this is a case reportNot availableAAA - manuscript preparationRG - involvement in managing the patientZMF - data collection.MM - involvement in managing the patientIA - literature searchAA - involvement in managing the patientAM - manuscript preparationFH - final reviewTPNP - preparation of psychiatric inputThis is a case report. No human participants were involved.FHConsent was obtained from the patientNot commissioned, externally peer-reviewed.The authors declare that no relevant or material financial interests exist.


Anus-preserving surgery for a large rectal gastrointestinal stromal tumor (GIST) may be difficult because of the location of the tumor in the pelvis. Therefore, rectal GIST might require extensive surgery, such as abdominoperineal resection. In recent years, preoperative imatinib therapy has been used to reduce tumor size and preserve the anus in some cases. However, there have been few reports of laparoscopic anal-preserving surgery for giant rectal GIST.We present the case of a 55-year-old man who was referred to our hospital for examination of a 10-cm pelvic mass in the lower rectum. Endoscopic ultrasound with fine needle aspiration was performed, and the pathological findings resulted in a diagnosis of GIST. The mass had spread to the prostate and left levator ani muscles, and as a result, surgery was deemed difficult to perform without damaging the pseudo-capsule. Therefore, preoperative chemotherapy with imatinib mesylate (IM) was performed for 8 months. The mass was reduced to 7.8 cm, and laparoscopic intersphincteric resection (ISR) was performed.We also review prior cases of rectal GIST where patients had undergone anal-preserving surgery following preoperative chemotherapy with IM. Our case represented the largest tumor size in a review of cases of patients who had successful anal-preserving laparoscopic surgery following preoperative chemotherapy with IM.Preoperative chemotherapy with imatinib mesylate was effective for reducing the rectal GIST, and laparoscopic ISR was useful for anal preservation, even when a tumor is large. Due to lack of initially subjective symptoms, rectal GISTs have often grown by the time of discovery, and therefore, anus preservation during surgery is often difficult . RecentlThe work has been reported in line with the SCARE criteria .2A 55-year-old man, with a history of abnormal bowel movements, visited local clinics over a 5-month period. Lower gastrointestinal endoscopy showed no abnormality in the rectal mucosa. An abdominal computed tomography (CT) found a huge mass in the Ra  -Rb  section of the rectum, and the patient was referred to the hospital for thorough examination. Pelvic magnetic resonance imaging (MRI) showed a mass measuring 10 cm on the left side of the lower rectum . The tumThe patient indicated a strong desire to preserve the anus, and therefore, we chose laparoscopic ISR and temporary transverse colostomy . SurgeryThe patient recovered with no postoperative complications and left the hospital on postoperative day 10. In histopathological tissue, most of the tumor disappeared by vitrification and fibrosis . One yea3Primary rectal GIST is a relatively rare disease, accounting for approximately 5% of all GIST . The curPreoperative chemotherapy with IM is useful for the treatment of rectal GIST. Cvanar et al. studied 83 patients with rectal GIST who underwent preoperative chemotherapy and found a high tumor shrinkage rate. Sixty patients 72.3%) had a partial response (PR), 18 (21.7%) had stable disease (SD), 3 (4.8%) had a complete response (CR), and 1 (1.2%) had progressive disease (PD) according to RECIST guidelines . In addi2.3% had A goal of surgery for GIST is to ensure a surgically safe margin without pseudo-capsule damage . For smaLaparoscopic ISR may, therefore, be a useful technique for giant rectal GIST. The advantages of this procedure are: 1. it may preserve anal function for tumors located in a lower position of the rectum and 2. it may ensure a safe surgical margin by extending to the intersphincteric plane through the abdomen and in resection of distal margins under a direct view through the anus . HoweverA review of cases of patients in Japan who had successful anal-preserving surgery following preoperative chemotherapy with IM is provided . The med4Preoperative chemotherapy with IM for giant rectal GIST is effective because it can be expected to reduce tumor size, allowing laparoscopic ISR to be a safe surgical technique for the preservation of the anus when treating a large rectal GIST.The authors have no conflicts of interest to declare.This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.This case report was exempted from ethical approval from the institution.Written informed consent was obtained from the patients for publication of this case report and accompanying images.S.N and N.M wrote this manuscript. S.N, N.M, T.T, H.I, S.F, T.O, H.T, M.U, C.M, T.M, MM and Y.D had medical conference to decide this surgical procedure. All authors approved the manuscript to be published, and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.This paper is a clinical report, so the authors declare that no registration is needed.Norikatsu Miyoshi is the Guarantor for this work.Editorially reviewed, not externally peer-reviewed.


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor in the digestive tract. Recurrences may occur even after radical resection; however, recurrence later than 10 years after surgery is rare. We report a case of GIST with recurrence of liver metastasis 25 years after surgery. A 56-year-old man complained of sudden epigastric pain and was transferred to the emergency department. He had undergone partial resection of the small intestine for leiomyosarcoma 25 years previously. Abdominal computed tomography showed multiple liver tumors with massive hemorrhage. Ultrasound-guided percutaneous biopsy was performed for the 15-mm hepatic tumor in segment 2. Pathological findings revealed proliferation of spindle-shaped atypical cells, and immunostaining for c-kit and CD34 was both positive; the patient was therefore diagnosed with GIST. He then underwent chemotherapy for 7 years but died of multiple organ failure due to GIST. Autopsy revealed GIST occupying the entire liver with peritoneal dissemination, and minute lung metastases that could not be identified by CT were also detected. This case is interesting in considering the recurrence of GIST, and we will report it together with the literature review. Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor in the digestive tract. Resection is typically the first treatment choice because of its high potential for malignancy. Recurrences may occur even after radical resection; however, recurrence later than 10 years after surgery is rare . We repoA 56-year-old man complained of sudden epigastric pain and was transferred to the emergency department. He had undergone partial resection of the small intestine for leiomyosarcoma 25 years previously at another hospital (31-year-old). He had an unremarkable family history, except for a father with aplastic anemia. He consumed alcohol occasionally and had never smoked.2) 98%. Tenderness was noted in the epigastric region, but no signs of peritoneal irritation were seen. Diminished peristaltic sounds were noted. Blood tests showed a total bilirubin of 3.9 mg/dL, aspartate transaminase (AST) of 283 U/L, alanine aminotransferase (ALT) of 301 U/L, alkaline phosphatase (ALP) of 1400 U/L, and gamma-glutamyl transpeptidase (γGTP) of 324 U/L, indicating hepatobiliary dysfunction, with a hemoglobin (Hb) level of 10.2 g/dL, suggestive of anemia. Tumor markers  were all within the normal range. The patient was negative for hepatitis C virus antibodies (HCVAb) and hepatitis B surface antigen (HBsAg).On admission, vital signs included a blood pressure of 108/65 mmHg, a pulse rate of 112 beats/min, a respiratory rate of 12 breaths/minute, and an oxygen saturation of peripheral artery  showed an irregular high-density lesion in the center of the liver, and bleeding was suspected. A multiple mass with contrast effects was observed in the left lobe of the liver, which was considered to be a tumor-associated hemorrhage . DiffusiAs the central part of the liver was diagnosed with a giant hemorrhage from tumor, ultrasound-guided percutaneous biopsy was performed for the 15-mm hepatic tumor in segment 2 . PatholoImatinib (400 mg/day) was introduced; however, 8 days after the initiation, the patient complained of sudden abdominal pain. Abdominal CT revealed intra-abdominal bleeding due to massive bleeding from the GIST liver metastases. Emergency transcatheter arterial embolization (TAE) was performed, and hemostasis was achieved.We considered the possibility that Imatinib might have triggered the tumor bleeding. However, since the mutation in Exon 11 is a high-response marker for imatinib, the drug was reintroduced after informed consent. Ten days after treatment re-initiation, intra-abdominal hemorrhage was observed again. Because of acute renal failure, the patient was treated for 6 days in the intensive care unit. It was decided that imatinib could not be continued, and the patient was therefore started on sunitinib after improvement of his general condition (57-year-old).Because of hand-foot syndrome, liver dysfunction, and cytopenia, sunitinib (50 mg/day) was administered for 1 week, followed by 2–4 weeks off treatment. Stable disease (SD) was maintained until the 50th course, and no bleeding complication was observed. However, progressive disease (PD) was observed when evaluating CT images after 58 courses (liver metastases were clearly increased in size), and we switched the patient to regorafenib (120 mg/day), which is the third line of chemotherapy (62-year-old). The patient achieved SD after 10 courses of regorafenib therapy for one week and resting for 2–4 weeks. However, CT imaging revealed apparent PD after 19 courses , the chemotherapy was discontinued, and palliative treatment was administered for next one year. Seven years after the diagnosis of liver metastasis, he died of multiple organ failure due to GIST  , duodenum (n = 1), small intestine (n = 3), or rectum (n = 1), and the average tumor size was 6.9 cm . The mitotic index was <5/50 HPF in the three cases for which information on mitotic index was available, and according to the risk classification by Flecher, two patients were considered “low”, one was classified as “intermediate”, one as “high”, and for one patient, the risk status could not be determined. The average time to recurrence was 18.5 years .We performed a literature search in PubMed on cases of GIST recurring 10 years or more after surgery, using the keywords “GIST, metastasis” between 1995 and 2019 (English literature only). Six cases including our case were reported  8–12]. –12. 8–12Cases recurring more than 10 years after surgery included low-to high-risk patients according to the Flecher classification . Thus, cIn the present case, minute lung metastases were found during autopsy. These pulmonary metastases were macroscopically unrecognizable and were diagnosed on the basis of microscopic findings. Pulmonary metastases of GIST are rare and account for only 2% of all metastases . In thisRegarding recurrence of GIST-associated liver metastasis, it was reported that 90% of re-recurrences occur even after surgery, and the guidelines recommend chemotherapy , 14, 15.In this case, chemotherapy for up to 7 years was possible as it could maintain the SD for a long period of time. Sunitinib is usually administered for 4 weeks and then withdrawn for 2 weeks, whereas regorafenib is administered for 3 weeks and withdrawn for 1 week. However, in this case, both drugs were administered for 1 week and withdrawn for 2–4 weeks; therefore, chemotherapy could be continued without serious side effects. For slow-growing tumors, long-term chemotherapy with minimal side effects may contribute to long-term prognosis.Tumor bleeding is a diagnostic hallmark of GIST. Gastrointestinal bleeding and intraperitoneal bleeding have been reported, and tumor bleeding also triggered the diagnosis in this case , 18. In The limitation of this study is that it is not possible to make a definitive diagnosis of metastasis of GIST due to the lack of pathological specimens 25 years ago.Conclusively, GIST may recur long after surgery and its risk are not associated with conventional risk classification. The current guidelines recommend follow-up up to 10 years after surgery, but follow-up for more than 10 years is desirable. We would also like to emphasize the importance of adjuvant chemotherapy to prevent recurrence over a long time.