Giant cell tumor of the bone (GCTB) presents as a lytic lesion of epiphyseometaphyseal regions of the long bones usually during the second to the fourth decade with female predilection. Histologically, they are formed of neoplastic mononuclear cells with a higher receptor activator of nuclear factor kappa-B ligand (RANKL) expression responsible for the aggressive osteolytic nature of the tumour. RANKL helps in the formation and functioning of osteoclasts. A newer molecule, Denosumab, is a monoclonal antibody directed against RANKL and thus prevents the formation and function of osteoclasts. Management of refractory, multicentric, recurrent, or metastatic GCTB remains challenging as achieving a tumor-free margin surgically is not always possible. Denosumab may play a crucial role, especially in the management of such difficult lesions. We present three cases of locally aggressive GCTB  that were treated and responded very well to Denosumab therapy. Giant cell tumor of the bone (GCTB) is a commonly seen bone tumor in clinical practice and represents 4-10% of primary bone malignancies. They usually present as benign or locally aggressive lytic lesions with a predilection for the epiphyseometaphyseal regions of the long bones . HistoloSurgical resection or extended curettage and bone cementing are the usual treatment options for GCTB, but for unresectable cases, treatment options so far have been limited. The main issue with the surgical resection is the high recurrence rate: 27%–65% after isolated curettage; 12%–27% after curettage with adjuvant, such as high-speed burr, phenol, liquid nitrogen, or polymethyl methacrylate (PMMA); and 0%–12% after en bloc resection . SimilarWe present three cases of locally aggressive GCTB  treated with denosumab therapy.The Indraprastha Apollo Hospital Ethics Committee reviewed and approved this study. Informed patient consent was obtained from all patients involved in this study.Patient ages ranged from 19 to 32 years. All three patients were male. The reason for denosumab therapy in these patients included unsalvageable lesions or refusal of operative treatment for the recurrence. These cases were given injectable denosumab in the dose of 120 mg subcutaneously as a loading dose, followed by the same dose on 8th and 15th days and then every month for six months. The response to denosumab therapy was noted both clinically and radiologically every month.A 27-year-old young man presented with complaints of left shoulder pain of one year's duration. Initial imaging revealed a lytic lesion involving the whole of the left humeral head. There was an impending pathological fracture at the surgical neck of the humerus Figure .A biopsy confirmed a diagnosis of GCTB Figure .Extended curettage and bone cementing could not be done as sufficient bone stock was not available for the procedure and the lesion appeared to be unsalvageable. Hence, he was put on denosumab therapy. There was a dramatic response clinically as well as radiologically. At the end of six months, extended curettage and cementing were done as the lesion became more contained and salvageable Figure .Histopathological examination showed fragments of dense fibro-osseous tissue, comprised of abundant osteoid separated by mildly cellular fibrous tissue. Focal calcification and islands of woven bone were also present at places. These features were consistent with effects of denosumab therapy in a known case of GCTB Figure .A 19-year-old man presented with pain in the lower back radiating to both lower limbs and difficulty in passing stool and urine over the preceding four months. He was diagnosed as having an expansile lesion in the sacrum, which was diagnosed as GCT on biopsy. He underwent spinal decompression and resection of the tumor in the S2-3 region. However, he continued to be symptomatic following the surgery. On repeated MRI after one month, there was evidence of a persistent lesion Figure .He was therefore given denosumab therapy. The pain and swelling had started to regress after one month of therapy and his symptoms continued to improve at the completion of therapy at six months. On repeated x-ray, the tumor size had decreased and there was a dramatic improvement in the pain Figure . RadioloA 32-year-old male underwent curettage, bone grafting, and plate fixation Figure  for a hiHe then presented with pain around the operative site. The plain radiograph revealed evidence of a recurrence of GCT at the previously operated site. The patient was unwilling to undergo further surgery so we started him on denosumab therapy. After six months of therapy, the patient was much better clinically as well as radiologically Figure .The radiological evidence of healing of the lesions included a) cortical thickening (sclerotic rimming) and b) increased calcification and ossification inside the tumor, due to the reactive bone formation.A GCTB is benign but locally aggressive bone tumor. Microscopically, the hallmark feature of a GCT is the presence of multiple multinucleated giant cells (formed from a fusion of mononuclear cells). A GCTB may present with local recurrence, multicentric or complex lesions that cannot be removed surgically without causing significant morbidity. A GCTB usually occurs during the second to fourth decades of life , with a Various forms of treatment have been used for the treatment of GCTB. The current preferred treatment for Stage I and II is extended curettage of the tumor, for Stage III an en bloc excision or amputation with reconstructive procedures, if required, and for surgically inaccessible lesions, radiotherapy is advised. The results of all these procedures are not optimal as they are associated with recurrence and other complications. Wide resection is associated with a lower recurrence rate compared with intralesional surgery (5% vs. 25%), but it involves the complex problem of reconstruction and associated morbidity . RadiothDenosumab has been recently used for the palliative treatment of GCTB -14. HoweThese cases further enhance the evidence of efficacy and safety of denosumab in challenging cases of GCTB which are not immediately amenable to surgery. Moreover, we agree that, on histopathological analysis, the tissue specimens from patients with GCTB on denosumab therapy confirmed a significant reduction of giant cells and reduction of cellular and proliferative tumor stroma. A radiological comparison clearly shows the improvement in the lytic picture with peripheral healing by increased sclerosis of the cortices of an involved bone and reactive bone formation in the tumor . Recent However, we believe that before advocating the regular use of denosumab for GCTB a few questions need to be answered regarding an optimal schedule of therapy, its dosing and its effect on the immature skeleton, pregnancy, and in lactating women, etc. A further question arises as to whether denosumab can be used for definitive therapy of GCTB and if it can reduce the extent of surgery or recurrence rates after definitive surgery. In our first case, denosumab acted as a palliative agent and helped in surgical curettage by reducing the size of the tumor, whereas, in second case, it was the only viable option as the lesion was not amenable for surgery. Long-term follow-up of patients treated with denosumab is not available in the literature. Early detection of recurrence is difficult as there is no specific tumor marker for giant cell tumors. The dilemma of whether the effect of denosumab on GCTB is temporary or definitive remains unanswered. However, there is one case report published recently showing rapid recurrence after cessation of long-term denosumab therapy . More loIn our experience, denosumab is a newer treatment option for unresectable and recurrent GCTB with good clinical as well as radiological outcomes. It aids well in the reduction of the surgical trauma by reducing the amount of surgical resection and may be helpful with medically compromised patients. However, long-term multicentric studies with large sample populations are required in the future to clearly define its role for the management of primary GCTB as well as to find the answers regarding the optimal scheduling, patient selection, use in the adjuvant setting, and long-term toxicity concerns.


Ureteral polyps are benign tumors of the ureter, which are relatively rare. The etiology has proposed various hypotheses, involving chronic inflammation and congenital disease. Most of them are commonly diagnosed in the upper ureter including the ureteropelvic junction. Some studies have reported polypectomy using a holmium laser, but several studies presented laparoscopic ureteroureterostomy for patients in whom the mentioned procedure is difficult. We underwent laparoscopic ureteroureterostomy with a combination of flexible ureteroscope for ureteral polyps of more than 3 cm length. We used ureteroscopy with a laparoscopic approach to minimize the length of ureter resection. Using the light guide of ureteroscopy is useful to decide the exact and minimal excision range for ureteroureterostomy. Although the etiology remains to be clarified, various hypotheses, involving chronic inflammation and congenital disease, have been proposed. Many patients show hydronephrosis regardless of the tumor site. It causes flank pain or hematuria in some patients. Concerning treatment, transurethral resection using a holmium laser was recently reported, but several studies presented laparoscopic ureteroureterostomy for patients in whom the mentioned procedure is difficult. In this study, we report a patient with multiple ureteral polyps, measuring more than 3 cm in length, in whom laparoscopic ureteroureterostomy using a flexible ureteroscope was performed, leading to favorable results, because transurethral laser resection was difficult.UThe patient was a 36-year-old male. Left lumbar pain appeared, and he consulted a local clinic. Abdominal ultrasonography showed left hydronephrosis. For detailed examination and treatment, he was referred to our department. Contrast-enhanced CT revealed left hydronephrosis and a tumorous lesion of the upper ureter, with enhancement effects. Under a tentative diagnosis of left ureteral cancer, transurethral retrograde ureteroscopy and tumor biopsy were performed. Endoscopically, a papillary tumor involved the inner cavity of the ureter, and it was difficult to examine the tumor base. Furthermore, there was no influx of contrast medium into an area superior to the tumor. Under a flexible ureteroscope, laser resection was conducted, but it was difficult to resect the tumor. The histopathologic findings suggested fibroepithelial polyps (FEPs).As tumor observation was insufficient on retrograde ureteroscopy, percutaneous anterograde ureteroscopy was performed. Under a flexible ureterorenoscope, multiple polyps measuring about 4 cm in length and the ureteral stenosis on the cephalic side were confirmed continuously . As tran1 Preoperative radiographic diagnosis of the ureteral polyps is difficult that distinguish right from uteretal carcinoma and radiolucent calculi. It is necessary to perform ureteroscopy or transurethral biopsy to confirm them.2FEPs of the ureter are a relatively rare benign tumor. They are frequently present in 30 and 40 years old males. They usually occur in the left ureter twice more than in the right, and commonly most of them are diagnosed in the upper ureter including the ureteropelvic junction. Adey and colleagues reported that FEPs of the ureter were rare in children. They confirmed only 9 cases of 1710 ureteropelvic junction obstructions on whom pyeloplasty was performed.3 Recently, several reports described that laparoscopic pyeloplasty or ureteroureterotomy was performed for large FEPs. Tamasz and colleagues described that laparoscopy being the treatment for FEPs is a useful and minimally invasive technique. When the endoscopic procedure is difficult or impossible in large polyps, a procedure of the surgeon's choice may be considered.4 In our department, resection using a holmium laser has also been performed as a first-choice treatment for pedunculated polyps. However, laser resection is not always possible for patients with sessile or multiple polyps. We have rarely encountered patients in whom treatment was difficult. In such cases, it is necessary to perform ureteroureterostomy after partial ureterectomy at the polyp site. When the length of the ureter to be resected is long, end-to-end anastomosis of the ureter is difficult, requiring intestinal utilization in some cases. In the resection of more than 4 cm ureter including the constriction, we predicted difficulty and uncertainty when we identify the excision site or determine the length of the resection in the laparoscopic surgery alone. Therefore, to minimize the extent of the ureter to be resected, we have combined a flexible ureteroscope. It was possible to accurately identify the normal site of the ureter under ureteroscope-guided observation and decide on the extent of resection through the abdominal cavity, regarding its light guide as a mark. As a result, the extent of resection was shorter than estimated on preoperative assessment, and ureteroureterostomy was effectively achieved. Furthermore, transurethral operations were combined, facilitating the insertion of a ureteral stent (Double-J stent) without loading at the anastomotic site. In addition, we minimized perirenal exfoliation, considering that circumferential perirenal exfoliation may cause the kidneys to completely separate, influencing subsequent operations, such as ureterostomy; therefore, operations, such as suture, could be promoted readily. The present case suggests that ureteroureterostomy is possible even when resecting a 4- to 5-cm area of the ureter. Laparoscopic ureteroureterostomy combined with a flexible ureteroscope may become a major treatment option for patients including those in whom transurethral treatment is difficult.To treat FEPs of the ureter, partial ureterectomy under laparotomy or nephrectomy has been performed in ancient times. With subsequent advances in endoscopic devices, transurethral resection has been selected to treat pedunculated polyps. Some studies have reported polypectomy using a holmium laser, which has been routinely used to treat calculi since its appearance. Even if most of FEPs are possible for resection, the base of the polyps may remain without being sufficiently resectable.In conclusion, we performed laparoscopic management using a ureteroscope to minimize the excision site. The use of the ureteroscope's light guide as a mark was useful to accurately decide on the extent of the resection.


The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations. It primarily involves the skeletal, cardiovascular, and ocular systems; however, gastrointestinal complications are rare. Herein, we describe the case of a 31-year-old male who initially presented with acute abdominal pain for one day. His imaging features revealed a dilated sigmoid colon, consistent with sigmoid volvulus that was immediately decompressed. Surgical resection was recommended to treat the sigmoid volvulus. Preceding the treatment, the patient underwent an extensive workup, including an echocardiography that revealed aortic root dilatation. His clinical history, physical exam, and echocardiographic findings raised the suspicion for MFS. Subsequently, the diagnosis of MFS was confirmed on genetic testing. This is a case that highlights the multidisciplinary  approach to diagnose a patient with MFS who presented with symptomatic sigmoid volvulus. As this presentation may be a harbinger of more severe manifestations of MFS, it is important to identify it as such in order to accomodate for timely management. Marfan syndrome (MFS) is a connective tissue disorder caused by the mutation of fibrillin-1 gene. While this syndrome is not uncommon, it is rare for it to present with gastrointestinal involvement. Sigmoid volvulus (SV) is an emergent gastrointestinal condition associated with high mortality. The risk factors for SV include chronic constipation, colonic dysmotility, old age, colon cancer, and Hirschsprung’s disease. However, SV in association with MFS is a rare clinicopathologic entity. A review of the literature suggests that only one such case has been reported [A 31-year-old male presented to the emergency department of our medical center with a one-day history of acute abdominal pain, which was constant, diffuse, non-radiating, stabbing in nature, and aggravated with movement. His last regular bowel motion was one week ago and he had been passing only mucus since. His past medical history was noncontributory and he had no pre-existing gastrointestinal disturbances.Physical examination revealed hypoactive bowel sounds and diffuse abdominal tenderness with rebound. There was no abdominal rigidity or guarding. Rectal examination revealed an empty rectal ampulla. Plain abdominal radiograph demonstrated a greatly dilated sigmoid colon that almost filled the entire abdomen  from the anal verge  mutation in fibrillin-1 gene, confirming the diagnosis of MFS. Genetic screening within the family revealed that his brother was also a carrier of the same mutation. Subsequently, our patient underwent an uneventful subtotal colectomy. His recovery was unremarkable and he was discharged from the hospital. Informed consent was obtained from the patient for this study.Sigmoid volvulus (SV) occurs when there is torsion of the sigmoid colon over its vascular pedicle, causing obstruction or ischemia -2. Risk MFS is a multisystem connective tissue disorder. It follows an autosomal dominant pattern of inheritance with around 30% of cases showing sporadic mutations . It is cThe gastrointestinal involvement in MFS is rare. There are a few case reports on bowel obstruction due to malrotation of gut, gastroesophageal reflux disease (GERD), small hiatus hernia, gastric volvulus, congenital band, diverticulitis, and Zenker’s diverticula in the adult patient population -8. ThereThe new diagnostic criteria for MFS put more weight on the cardiovascular manifestations of the disorder. Aortic root aneurysm and ectopia lentis are now cardinal features. In the absence of any family history, the presence of these two features is sufficient for the unequivocal diagnosis of MFS. In the absence of one of these two cardinal features, the presence of an FBN-1 gene mutation of positive systemic score is required . DiagnosIn MFS patients, the life span is generally reduced, mainly due to the cardiovascular complications. The medical treatment is β-blockers, which decreases the systolic aortic pulse pressure, thereby delaying aortic dilatation . TherefoA multidisciplinary approach, as applied in our case, using clinical, radiologic , endoscopic, and genetic testing is required for early and accurate diagnosis, which then allows for comprehensive care of such patients, including application of screening measures and interventions to address or prevent serious complications.In conclusion, sigmoid volvulus as a presentation of Marfan syndrome is unusual. Clinicians should maintain a high index of suspicion in these patients as prompt diagnosis is life-saving in those with underlying or subsequent cardiovascular complications. Further population-based clinical studies are warranted to broaden the scope of our knowledge on this association and to frame guidelines to standardize the care of such patients.


The most common pattern of recurrence of gastric cancer (GC) is peritoneal dissemination. However, rectal metastasis via hematogenous or lymphatic spread is exceedingly rare. We present a case of a 65-year-old man with an intramucosal GC who developed a rectal recurrence, possibly via a hematogenous route.A 65-year-old man underwent curative endoscopic submucosal dissections for the intramucosal GCs at the anterior wall of the fornix twice. The third GC at the similar location was treated by radical laparoscopic proximal gastrectomy; microscopic examination revealed well-differentiated tubular adenocarcinoma confined to the lamina propria mucosae . Follow-up colonoscopy revealed a 30-mm submucosal mass in the rectal wall 2 years later, and a metastasis of gastric origin was suspected histopathologically. After a staging laparoscopy confirmed the absence of findings suggestive of serosal involvement or peritoneal dissemination, including negative peritoneal washing cytology, a laparoscopic low anterior resection with lymph node dissection was performed. Microscopically, the tumor was found to mainly be located in the submucosal layer and showed features of moderately differentiated tubular adenocarcinoma. The serosal surface was free of disseminated tumor. Lymph node metastases were identified. Immunohistochemically, there were foci of carcinoma cells that were positive for cytokeratin 20; however, they were negative for cytokeratin 7. Negative staining for caudal-type homeobox 2, a transcription factor indicating goblet cell differentiation, combined with absence of intramucosal carcinoma in the rectal mucosa, suggested a diagnosis of metastatic adenocarcinoma of gastric origin. The absence of evidence of peritoneal dissemination suggested hematogenous or lymphatic spread.Although rectal metastasis from GC, particularly when attributable to hematologic or lymphatic metastasis, is very rare, metastatic gastric adenocarcinoma should be considered as a differential diagnosis for patients who present with a rectal tumor and a past history of GC, even if it is an early GC. Gastric cancer (GC) is the fourth most commonly diagnosed cancer and the second most common cause of cancer mortality worldwide . DespiteBased on the findings of pertinent studies, the recurrence patterns after curative surgery for GC have been classified as follows: (1) locoregional recurrence, (2) peritoneal recurrence, and 3) distant (including hematogenous) metastasis  distant , 9–11. OA 60-year-old man underwent endoscopic submucosal dissection (ESD) for early GC at the anterior wall of the fornix Fig. , upper. Thirteen months later, he underwent the second ESD for the second early GC at the similar location Fig. , lower, Three years after the second curative ESD, he underwent laparoscopic proximal gastrectomy with lymph node dissection for the third GC at the similar location Fig. . The morTwo years after curative resection, a follow-up colonoscopy revealed a rectal mass; the patient was asymptomatic. The mass measured 30 mm in the greatest dimension and appeared to be a submucosal tumor Fig. . HistopaMicroscopically, the tumor was found to mainly be located in the submucosal layer and showed features of moderately differentiated tubular adenocarcinoma Fig. . Lymph nThe recurrence patterns after curative surgery for GC have been classified as follows: (1) locoregional recurrence, (2) peritoneal recurrence, and 3) distant (including hematogenous) metastasis  distant –11, 18. Hematologic or lymphatic spread from a GC to the rectum is extremely rare. We here report a metastatic rectal lesion with no associated peritoneal dissemination. To the best of our knowledge, there are only five English language reports of such cases Table  12–16].–16.12–16There are only a few published studies regarding surgical treatment of GC recurrence. According to several reports on the role and outcomes of surgical treatment for non-hepatic intra-abdominal recurrences from GC, surgical resection is the treatment of choice for selected patients in whom the recurrent tumors are completely resectable , 21. NunIn the recent studies, a local recurrence rate after curative ESD for GC is generally low (in the range 0.1–1.1 %) , 24. On In summary, we found the tumor at the rectum which appeared to be a submucosal tumor, and there were no findings of serosal exposure of tumor, peritoneal dissemination, and cancerous ascites. These findings support that the metastatic rectal lesion was due to hematologic or lymphatic dissemination, but not peritoneal metastasis. In our case, at least two distinct types of GCs, namely a gastric type and a Lauren’s intestinal type, were identified by gastrectomy and ESD, respectively. However, which type of GC caused rectal metastasis was obscured. Importantly, we confirmed that a rectal tumor was derived from an intramucosal GC, which is an extremely rare event.We here report a case of rectal metastasis caused by hematologic or lymphatic metastasis 2 years after curative resection for “early” GC. Although rectal metastasis from GC, particularly when attributable to hematologic or lymphatic metastasis, is very rare, metastatic gastric adenocarcinoma should be considered as a differential diagnosis for patients who present with a rectal tumor and a past history of GC, even if it is an early GC.Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.ESD, endoscopic submucosal dissection; GC, gastric cancer


Congenital hiatal hernia is a condition characterized by herniation of the abdominal organs, most commonly the stomach, through a physiological but overlax esophageal hiatus into the thoracic cavity. Prenatal diagnosis of this anomaly is unusual and only eight cases have been reported in the literature. In this paper we describe a case of congenital hiatal hernia that was suspected at ultrasound at 39 weeks' gestation, on the basis of a cystic mass in the posterior mediastinum, juxtaposed to the vertebral body. Postnatal upper gastrointestinal tract series confirmed the prenatal diagnosis. Postnatal management was planned with no urgency. Hiatal hernia is not commonly considered in the differential diagnosis of fetal cystic chest anomalies. This rare case documents the importance of prenatal diagnosis of this anomaly for prenatal counseling and postnatal management. Congenital hiatal hernia (CHH) is characterized by the herniation of the abdominal organs, most commonly the stomach, through a physiological but overlax gastroesophageal junction into the thoracic cavity. The prenatal diagnosis of CHH is unusual and in the literature only eight case reports of prenatal diagnosis of this anomaly have been reported –5.The CHH is not commonly considered in the differential prenatal diagnosis of cystic chest anomalies. In this paper we report a case of hiatal hernia, suspected in the late third trimester of gestation, and present a review of the literature on the subject.A 37-year-old woman  was referred to our fetal unit at 39 weeks' gestation for evaluation of what appeared to be a small cystic mass in the fetal thorax. The pregnancy had been otherwise uneventful. Family history was unremarkable. Amniocentesis for karyotyping had been performed at 16 weeks for advanced maternal age and revealed a normal karyotype . According to Italian guidelines, the patient had undergone ultrasound examinations at 20 and 32 weeks' gestation, and the stomach was normally seen located on the left in the abdomen. Routine ultrasound examination performed at 39 weeks showed a fetus with normal growth. The ultrasound examination was performed because, in our hospital, all patients are evaluated with a clinical and ultrasound examination at 39 weeks of gestation. On the transverse section of the thorax the heart appeared normally located, without mediastinal shift, and the lungs appeared to be of normal echogenicity and volume. A round cystic image, diameter 8 mm, was visible behind the heart in the posterior mediastinum ; in sagiAt 40 weeks' gestation, the patient was admitted for spontaneous labor. A male newborn, weighing 3460 g, was delivered vaginally with Apgar scores of 9 and 10 at 1st and 5th min, respectively. Postdelivery chest radiography revealed no pulmonary abnormalities and a normal diaphragmatic profile .The upper gastrointestinal tract series using barium confirmed the prenatal diagnosis of CHH, categorized as type I. During the examination, gastroesophageal reflux was observed, together with a sliding up and down of the stomach into the fetal thorax. The newborn was discharged with prophylactic therapy with ranitidine and domperidon. At six-month follow-up the baby is growing well with sporadic episodes of reflux and he is still on therapy.Hiatal hernia (HH) is defined as a herniation of the abdominal organs into the chest through the oesophageal diaphragmatic hiatus . This isHiatal hernia often involves parts of the stomach and rarely other abdominal viscera and it is generally classified by the position of the gastroesophageal junction relative to the diaphragm. The gastroesophageal junction is a complex valve composed of a smooth muscle element and a diaphragmatic element. These normally supplement each other to maintain competence in a static condition and during dynamic stress associated with increased intraabdominal pressure . Hiatal In all reported cases of CHH, the condition was identified in the third trimester of gestation. This late onset may be due to the fact that the fetus may be unable to develop sufficient pressure to dilate the intrathoracic stomach until the third trimester. In the third trimester, the development of adequate pressure during swallowing, probably with the effect of reflux of gastric secretions into the esophagus, could result in visualization of the dilated esophagus/stomach at ultrasound .In the majority of the reports, CHH was an isolated anomaly , 3, 4. HThe presence of a cystic mass in the fetal thorax should alert the sonographer to consider in the differential diagnosis congenital chest anomalies such as diaphragmatic hernia, macrocystic adenomatoid malformation of the lung, or rarer conditions such as esophageal duplication or neurenteric cyst .The sonographic criteria for the prenatal diagnosis of CHH were first proposed by Bahado-Singh et al.  and thenAlthough congenital hiatal hernia is never a critical condition, it cannot be considered entirely free from significant morbidity. CHH does not carry the same risks as those seen in adult cases. Nonetheless, in the infants and children the herniated stomach into the thorax with continuing acid regurgitation can be complicated by peptic ulceration, severe esophagitis, pyloric stenosis, vomiting, gastric volvulus, aspiration pneumonia, and pulmonary fibrosis . ComplicCongenital hiatal hernia is uncommon and it is rarely prenatally diagnosed but it should be included in the differential diagnosis of any chest anomalies sonographically detected because an early diagnosis and an appropriate postnatal management avoid unnecessary morbidity and even mortality.


In this case report, we first demonstrated that neoadjuvant imatinib therapy can be performed safely not only to downsize tumors, but also to allow adequate time for the effective treatment of major comorbid illnesses. A 74-year-old man was diagnosed with a 45 mm GIST of the lower rectum. He also had severe stenosis in the proximal segment of the left anterior descending coronary artery. Following the implantation of a drug-eluting stent, the patient received imatinib together with dual anti-platelet therapy for 12 months without obvious side effects. Follow-up image studies revealed tumor shrinkage as well as stent patency. En bloc resection of the GIST was performed laparoscopically, which preserved the anus. The patient is currently alive without any evidence of relapse for 12 months after surgery.Surgery is the mainstay of treatment for gastrointestinal stromal tumors (GISTs). However, complete resection of rectal GISTs is sometimes difficult because of bulkiness and/or anatomical reasons. Neoadjuvant imatinib therapy has gained attention as an alternative treatment to increase the chance of  Gastrointestinal stromal tumors (GISTs) of the lower rectum often require invasive surgery such as abdominoperineal excision and multivisceral resection . The preA 74-year-old man visited our department complaining of melena and an anal mass. On digital examination, a firm, round-shaped, rubbery-textured mass was palpated at the anterior wall of the rectum 2 cm from the anal verge. The mass was adhesive to the prostate, but not to the pelvic floor. Computed tomography (CT) scans and magnetic resonance imaging (MRI) of the pelvis showed a mass 45 mm in diameter between the anterior wall of the lower rectum and prostate Figure A and 90%Laparoscopic low anterior resection with diverting ileostomy was performed after a week preoperative imatinib-free interval. The patient exhibited urinary retention and ileus shortly after surgery, both of which were ameliorated conservatively, and no postoperative cardiac event was noted. Histopathological examinations revealed that CD34-positive spindle-shaped eosinophilic tumor cells spread from the muscularis propria to the adventitia with marked hyalinization (image not shown). The tumor was diagnosed as a GIST of low-grade malignancy due to the negligible number of mitotic cells per 50 high-power fields. Surgical margins were proven clear of viable tumor cells. The patient remains free of recurrence 1 year after surgery without adjuvant chemotherapy.GISTs of the colon and rectum are relatively uncommon, and only account for approximately 5 to 10% of GISTs in the gastrointestinal tract .en bloc resection is impossible because of the bulkiness or anatomical location of the tumor. Fiore et al. reported that all patients with GISTs showed a median tumor size reduction of 34% following preoperative imatinib therapy for a median of 9 months with tolerable toxicities [Surgical resection is the mainstay of treatment for localized GISTs ,2. Howevxicities . Previouxicities -8. ImporAlthough controversy still remains regarding the optimal duration of neoadjuvant imatinib therapy, the drug has typically been administered for 6 to 12 months . This peThere are an increasing number of cases of gastrointestinal malignancies with major comorbidities . The preRadical resection (R0) is associated with the postoperative prognosis for GISTs . TherefoIn summary, our case newly demonstrated that neoadjuvant imatinib therapy could provide additional time for the treatment of other major comorbid illnesses, in addition to increasing the possibility of R0 dissection and minimizing the risk of rupture during surgical manipulation, which improve patient prognosis as previously proposed ,7,8.Written informed consent was obtained from the patient for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.CT: Computed tomography; CAG: Coronary angiography; DES: Drug-eluting stent; GIST: Gastrointestinal stromal tumor; LAD: Left anterior descending artery; MRI: Magnetic resonance imaging; PCI: Percutaneous coronary intervention; PDGFRA: Platelet-derived growth factor receptor alpha.The authors declare that they have no competing interests.HN wrote the manuscript. TK, TT, SI, ES, JK, and TW performed the operation. MT performed the percutaneous coronary intervention, participated in the acquisition and interpretation of radiological data, chose figures, and contributed to the final revision. MI carried out the histological studies. MI, IK, and WT reviewed the paper. All authors read and approved the final manuscript.


Mesenteric ischemia is one of the most mortal diseases of the gastrointestinal system causing acute abdomen. In most of the patients, the etiological factor is the obstructive embolism or thrombosis of superior mesenteric artery. In the literature, there have been reports regarding also celiac trunk occlusion in rare situations. The gold standard treatment relies on early diagnosis. The originality of our report relies on the concurrent obstruction of both vascular structures. Mesenteric ischemia accounts for 2% of cases with gastrointestinal diseases causing acute abdomen . AlthougA 44-year-old woman was referred to emergency department with abdominal pain lasting for 1 week. She did not have a particular medical history except a nephrectomy performed 10 years ago because of renal calculi. In her physical examination, there were signs of peritoneal irritation and diffuse abdominal tenderness. Her blood pressure was 100/80 mm/Hg, body temperature was 38.1°C, heart rate was 115/min, LDH was 485 IU/L, PT-INR was 1.09, and level of glucose was found to be 193 mg/dL. In computerized tomographic angiography, 100% of CT and 80% of SMA were obstructed; there were hypodense areas on the left and right anterior segments of the liver, and the spleen was also hypodense; gallbladder was normal and intestines were edematous Figures . The patShe was reoperated on in the 6th month for closure of ostomies. An end-to-end full layer anastomosis was performed between jejunum and ileum segments. On the postoperative 4th day, she was reoperated on after detecting bile drainage. In the operation, there was found to be a leakage in the anastomosis and jejunostomy with mucous fistula was performed. In the intensive care unit, she died with disseminated intravascular coagulation on the postoperative 3rd day.SMA and CT are the main sources that supply blood to the gastrointestinal system. In the autopsy series, over 50% of stenosis has been reported in at least one mesenteric artery, in 6–10% of the population . While sAngiography is the golden standard technique in diagnosis . In meseAfter the diagnosis is certain, treatment options depend on many factors. The level of occlusion, collateral vasculature, and clinical state of the patient are among them. Surgery is the only option for patients with intestinal infarction and signs of acute abdomen and peritoneal irritation may give a hint for infarction. In diagnosed patients without these signs, endovascular interventions can be performed with low rates of complication and mortality . MesenteAn algorithm is essential for early diagnosis and treatment. In the literature, there are examples of attempts for forming an algorithm. In one of these studies, patients were divided into two groups. In the first group, the patients were unstable with classical signs of mesenteric ischemia such as abdominal pain out of proportion and tomography findings showing arterial occlusion. Endovascular treatment with the evaluation of intestinal ischemia in the operation room is advised for this patient group. In the other group, the patients were with nonspecific symptoms, resulting from venous thrombosis and nonocclusive mesenteric ischemia; bowel rest, regular physical examination, treatment of underlying disease and inflammatory process, and exploratory laparotomy for the treatment of vascular deficiency are advised . AlthougIt is of great importance to be aware of clinical findings of acute and chronic mesenteric ischemia because of the worth of early diagnosis. With early diagnosis, there may be a chance for vascular surgical modalities and endovascular interventions. After the development of end-organ damage, the morbidity and mortality of any procedure can reach high rates.At this point, the most important role is for the clinician. Clinical suspicion with early diagnosis has utmost importance for increasing survival rates. We aimed to emphasize the vital importance of an experienced surgical team, intensive care unit, the capability for endovascular interventions, and advanced imaging modalities in coping with such mortal entity.


Colon carcinoma is a rare disease in the pediatric population. Here is a report on a 17-year-old male adolescent with colon adenocarcinoma who presented with recurrent epigastric colic pain for 1 month. Diagnostic laparoscopic surgery revealed a 3.2 × 3 cm tumor at the ascending colon, with serosal involvement and peritoneal metastasis. Clinical differences of colorectal carcinoma among children and adults are reviewed and summarized. However, family history with certain well-documented genetic mutations or inflammatory bowel disease should raise suspicion to the disease.3Colorectal carcinoma (CRC) in children, although rarely discovered, comprises approximately 1% of pediatric neoplasms. It is also the most common primary gastrointestinal malignancy in children.Here is a report that aims to clarify the clinical features and differences between pediatric and adult colon carcinomas. A clearer insight into the disease may help clinicians arrive at an earlier diagnosis for children and adolescents, and consequently, improve overall survival outcome.A 17-year-old male adolescent suffered from recurrent abdominal colic pain for 1 month. The pain was aggravated by walking and partially relieved by bed rest. No referred pain was noted, but associated symptoms were nausea and mildly loose stool. He denied history of tarry or bloody stool. His father had esophageal cancer.Progressive epigastric cramping pain was noted again on the day of admission. There was no fever, vomiting, or diarrhea. Physical examination revealed a distended abdomen with epigastric tenderness. No palpable mass or peritoneal sign was noted. Plain abdomen x-ray showed dilated bowel loops with multiple air-fluid levels Figure A. IntravAbdominal computed tomography (CT) revealed no specific pathologic lesion Figure B–C. ParaThus, diagnostic laparoscopy surgery was suggested. An annular colon tumor, about 3.2 × 3 cm in size, with serosa involvement, was found in the ascending colon  mismatch repair system, that is, the MLH1 (human mutL homolog 1), MSH2 (human mutS homolog 2), MSH6 (human mutS homolog 6), and PMS2 (human postmeiotic segregation 2) proteins , which plays an important role in colon cancer oncogenesis and represents an important target for cancer therapy.s Figure D1–D5.Further lung and abdominal CT survey showed no distant metastasis. The patient was then transferred to a pediatric oncology center for chemotherapy with the regimens of bevacizumab and irinotecan. He completed the chemotherapy protocol smoothly without any major complications. After 1 year of follow-up, no tumor recurrence was noted.5 The reported peak age is 15 years old, while the youngest reported patient is a 9-month-old female infant.6 Despite its rarity, CRC is the most common primary solid malignancy of the gastrointestinal tract among children.6CRC is rare in children, with annual incidence of about one in 10 million adolescents younger than 20 years old.7 The incidence rate is around 43.7 per 100 000 men and women per year, with peak age of 65 years old.8In contrast to the pediatric population, adult colon carcinoma is the third most common cancer in men and the second in women.1 Other reported symptoms include altered bowel habit, weight loss, and anemia.2 However, these symptoms are nonspecific in children, which may mimic a lot of common functional gastrointestinal disorders.9 The duration of symptoms before diagnosis is usually lengthy, ranging from 2 to 6 months, with median of 3 months.2 For elderly patients, symptoms and signs including fecal occult blood test positive (77%), rectal bleeding (58%), anemia (57%), and abdominal pain(52%) were most commonly recorded. The median duration for the above symptoms to diagnosis was 5 weeks (interquartile range 1–20 weeks) .10 Furthermore, as high as 30% of the adult patients have advantage of early detection by screening.11 Other clinical features of pediatric CRC reported in previous literature are summarized in Table Abdominal pain and vomiting are the most common symptoms in pediatric CRC patients.5 Nonetheless, 10% to 30% of reported childhood CRCs have predisposing factors,1 which include familial adenomatous polyposis (FAP), ulcerative colitis, Crohn disease, and Peutz-Jegher syndrome.3 High microsatellite instability (MSI) is one of the most important genetic mutations in childhood CRC3 and is caused by a DNA mismatch repair system. It is the hallmark of the early-onset CRC, Lynch syndrome, which is also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC). Some well-known mutations in DNA mismatch repair genes are MLH1, MSH2, MSH6, and PMS2.15 On the other hand, mutational inactivation of the APC (adenomatous polyposis coli) gene responsible for the FAP is also reported to be higher in adolescents.9The disease usually occurs sporadically.1 Moreover, statistics also show a higher incidence of unresectable, residual disease and a higher metastasis rate in childhood CRC.2 Other clinical characteristics and differences between childhood and adult CRC are listed in Table The vast majority of CRCs are adenocarcinoma. However, the proportion of poorly differentiated to undifferentiated, mucinous type, signet-ring cell–containing carcinomas is higher in younger patients than in adults. These tumors also behave more aggressively; not only have they a poorer response to chemotherapy, but also associated with extensive intramural spread and peritoneal carcinomatosis.Surgery is the only curative modality for localized CRCs. However, for patients with cancer staging ≥III, adjuvant chemotherapy is important to eradicate micrometastases, thereby reducing disease recurrence and increasing the cure rate. Oxaliplatin and 5-fluorouracil–based antineoplastic agents were among the commonly used chemotherapy combinations. In the modern era, monoclonal antibody target therapy such as bevacizumab also showed promising results for metastatic colorectal cancer.1 Metastasis occurred in about 18% of newly diagnosed CRCs in adults. However, it might be as high as 37% in young patients even during initial presentation.9 The most common distant metastatic sites are liver, lung, lymph nodes, and peritoneum. Predictors of poor outcome aside from disease stage are incomplete resection, mucinous histology, proportion of signet-ring cells >10%, and absence of an in situ component.9 With the advances in diagnosis and treatments, overall 5-year survival is around 75% in adult patients but only around 51% in pediatric population (Table 5The overall survival in many series reports depends on the complete resection of the tumor and the radical resection of sentinel lymph nodes.Awareness and early intervention remain the main challenges in the early diagnosis and prognosis of CRC. Pediatricians and surgeons should have a high index of suspicion in cases of intestinal obstruction without hernia or previous abdominal surgery. In cases of early-onset CRC, testing for high MSI for defects in DNA mismatch repair genes may be helpful for genetic surveillance and prognostic evaluation.


Dear Sir,Appendicitis is the most common cause of acute surgical abdomen in children and adults but very rare in infants and neonates. Nonspecific clinical features and low index of suspicion make its diagnosis and management challenging which may result in high chances of complications like perforation and peritonitis thus increasing the morbidity and mortality. Appendicular perforation leading to peritonitis is a life threatening condition in neonates [1-3]. We are presenting a case of neonatal appendicular perforation leading to peritonitis.A 12-day-old male baby weighing 3kg was admitted to neonatal emergency with progressive abdominal distension, fever, irritability, and reluctance to feed. Baby was well for 10 days when he developed the symptoms. On examination the baby was febrile (101F), tachycardia (150/min), mild respiratory distress and abdominal distension with generalized tenderness. Patient was dehydrated and irritable. Immediate first line management was given. Complete blood picture revealed leococytosis. X ray abdomen showed pneumoperitonium. Patient was stabilized and operated.At laparotomy, marked amount of gas present in abdominal cavity. Bowel loops were adherent with inflammatory flakes. On further exploration perforated appendix was found . The base of the appendix was perforated causing peritonitis. There were no necrotic patches on the gut. Large gut was of normal caliber. Appendectomy was done and rectal biopsy was taken. Abdomen washed with warm saline and closed in layers. The post operative recovery was uneventful. The biopsy report excluded hirschsprung’s disease where as appendix revealed acute inflammatory changes with lymphatic hyperplasia.Acute appendicitis is a rare cause of acute abdomen in neonates and never considered in the differential diagnoses. The funnel shaped wide base of appendix, liquid diet and recumbent position of the neonates are less likely to cause acute appendicitis. It is extremely difficult to make a diagnosis of acute appendicitis in neonates due to non specific signs and symptoms that usually result in perforation of the appendix. The appendicular perforation can lead to pneumoperitonium as in the index case.Perforation could be due to sole inflammation of appendix or could be the end result of another disease processes such as hirschsprung’s disease, necrotizing enterocolitis, cystic fibrosis etc. A thin appendicular wall and indistensible cecum predisposes to appendicular perforation in neonatal appendicitis. The treatment of perforated appendicitis in neonates is appendectomy, however, where there is strong suspicion of hirschsprung’s disease on account of delayed passage of meconium or operative findings suggest it a colostomy may be performed with serial biopsies. In absence of suspicion of hirschsprung’s disease simple appendectomy with peritoneal lavage with warm saline is indicated; rectal biopsy may be added to exclude hirschsprung’s disease.Source of Support: NilConflict of Interest: None declared


Neurilemmoma also known as schwannoma is benign nerve sheath tumor rarely occurring in the oral cavity. Only 1% of all extracranial schwannomas show that intraoral occurrence with tongue is the commonest site and retromolar region is the least common site. It presents as encapsulated, slow growing, solitary, smooth-surfaced, usually asymptomatic tumor. We report a case of 70-year-old male with well-defined mass on left retromolar region which was painless and slow growing. Diagnosis is made by histological examination and immunohistochemistry analysis to confirm the neural tissue origin of the lesion. The treatment is complete surgical excision of the lesion without recurrence. Schwann cells form a thin outline around each extracranial nerve fiber and wrap larger fibers with an insulating membrane, myelin sheath, to enhance nerve conductance. Schwannomas arise when proliferating Schwann cells form a tumor mass encompassing motor and sensory peripheral nerves .So, schwannoma, also called neurilemmoma, neurinoma, and perineural fibroblastoma, is a solitary, benign, encapsulated, and slow growing tumor, arising from neural sheath's Schwann cells of the peripheral, cranial (except for the optic and olfactory), spinal, and autonomic nerves , 2. ThesSize and locations of lesions determine the presence and intensity of symptoms . SchwannIt was first described by Verocay in 1910 . It is rA 70-year-old male patient presented with complaint of swelling in lower left back tooth region for 1 year. The swelling was gradually increasing in size. On clinical examination a 3 × 3 cm sized mass was present on left retromolar region of normal mucosal colour , smooth Excision of the mass was done with adequate surgical margins of resection. Biopsy specimen was sent for histopathological examination. Macroscopically, one bit is large in size 1.5 × 1.5 cm, oval in shape, and yellowish in color and has irregular surface. The other two bits are 0.9 × 0.5 cm and 0.6 × 0.9 cm in size, respectively .Microscopically the tissue showed highly cellular areas enclosed within a fibrous capsule. The tumor was composed of fascicular pattern predominantly with nuclear palisading appearing like Antoni A areas  with intSchwannomas are benign encapsulated nerve sheath neoplasm composed of Schwann cells . Wright Embryologically, Schwann cells arise during the fourth week of development from a specialized population of ectomesenchymal cells derived from neural crest. These cells serve as thin barrier around each extracranial nerve fiber of motor and sensory nerves and wrap larger fibers with myelin sheath to enhance nerve conductance . SchwannDiagnostic investigations include ultrasound scanning, computed tomography, MRI, and fine-needle aspiration cytology. Ordinary histopathology provides definitive diagnosis of schwannoma. The tumor tissue consists of the so-called Antoni A and B type cells. Type A areas show densely packed, elongated spindle cells with nuclear palisading around central acellular eosinophilic areas representing Verocay bodies formed by thin cytoplasmic fibers and reduplicated basement membrane while type B tissue has a more myxoid consistency. Additionally, hemorrhage from adjacent tissue, necrosis, hyalinization, and cystic degeneration may also occur in the tumor tissue ., traumatic neuroma, nonossifying fibroma, lipoma, and leiomyoma [The main clinical differential diagnoses consisting of other benign neoplasms at this site include neurofibromaeiomyoma . The schTumors histologically simulating neurilemmomas in this case are leiomyoma, well-differentiated leiomyosarcoma, fibrosarcoma, and malignant peripheral nerve sheath tumor.Neurofibroma may be a manifestation of neurofibromatosis type 1 (NF-1) and the probability of recurrence in neurofibroma is higher than schwannoma. Neurofibroma has the potential for malignant transformation and about 15-16% of patients with neurofibromatosis present with malignant transformation. Neurofibromas lack the thick collagenous capsule of schwannomas.With lipoma, superficial varieties are easily recognized by their softness and yellow color, which is usually overlaid with a clear pattern of minuscule arterial blood vessels. Lipomas are rare in the oral cavity. Nonossifying fibroma often occurs in young people less than 20 years old, clinically with less pain .Malignant transformation of schwannomas in the head and neck region is unusual. Das Gupta and Brasfield notified an incidence of 8% of malignant schwannomas and Ghosh et al. reported an incidence of 13.9% , 13. TreFew cases of intraoral neurilemmoma of retromolar region have been reported. The histopathological features are characteristic for diagnosis of the neurilemmoma but few cases may pose diagnostic dilemma owing to cellular characteristic as seen in the present case. Therefore, immunohistochemical analysis of panel of markers with their consistent expression and intensity may serve as important diagnostic tool.


Teeth may vary in size, shape and number. Mesiodens is themost commonly occurring supernumerary tooth, usually seenbetween upper two central incisors which may be impactedor erupted. The present paper describes a rare case of palatalplaced, inverted, severely dilacerated and impacted mesiodenswhich was detected on radiographic examination forsome other problem. In pediatric dentistry, we come across numerous anomaliesin the size, shape, number and eruption of teeth. Someanomalies which are erupted in the oral cavity may bedetected through routine checkup. But on the other hand,some may remain impacted within the bone, without causingany signs and symptoms. The detection of such anomalieswill come into picture only while diagnosing some otherproblems. Here is such a case describing the presence ofinverted, palatal placed, impacted asymptomatic mesiodenswithout patient awareness, which was detected onradiographic examination for some other problem.The most commonly occurring supernumerary tooth isthe mesiodens. This term is used to refer to an uneruptedsupernumerary tooth in the central region of the premaxillabetween the two central incisors.1Mesiodens may be impacted or erupted. It may remainin position for many years, without clinical manifestations.Sometimes complications can be seen associated with themsuch as impaction, delayed eruption, ectopic eruption,crowding, diastema, and eruption into the nasal floor, formationof primordial or follicular cyst with bone destruction,pain and swelling at the site and resorption of the adjacentroot. Thus, early detection and removal of mesiodens is veryimportant to prevent such complications.A 12-year-old male patient reported to the Department ofPedodontics, College of Dental Sciences, Davangere,complaining of pain in the upper front tooth since 10 days.There was a history of trauma to the same tooth about2 years back. On clinical examination, Ellis class IVfracture was found with 21 and a palatal swelling withpus discharge . Periapical radiographic examinationrevealed a large periapical radiolucency lined by a thinradiopaque line with respect to 21 . Surprisinglythere was a small tooth like structure found close to theroot apex of the 21, which was inverted, root of that toothfound to be dilacerated . To know the properposition of this tooth a SLOB  rule was used, which revealed that, the tooth wasplaced palatally. A diagnosis of radicular cyst andmesiodens was made. Treatment plan of intentional overobturation followed by apicectomy and surgical extractionof mesiodens under general anesthesia was made. Forapicectomy of 21 labial approach was used  and asthe mesiodens was placed palatal, palatal entry was usedfor its removal .Morphologically, the mesiodens appear as a rudimentarytooth with a cone-shaped crown, smooth surface and smallersize than the normal teeth. Sometimes, it may present witha tuberculate shape and normal size, or may be found tomimic a natural tooth. The root is generally fully formedand is often found globular. The mesiodens is most frequentlyfound between the upper central incisors, inparticular on the palatine side, along the sagittal medianplane, which gives it its name.The present case is unique in several aspects. First theoccurrence of mesiodens is very rare in the mid palatalregion. The crown of mesiodens was very small in size withconical shape. The root was fully developed having a severedilaceration . Usually all mesiodenshave conical crown with short conical root. There are noreports citing the dilacerated mesiodens. It appears that thepresent case is the first report of mesiodens with dilaceratedroot. In addition, the placement of the tooth was again veryunusual with the crown facing posterior and the root anterior.Finally, it is either associated with neither any clinicalsymptoms, nor any developmental abnormalities orsyndromic features in a patient. It seems that due to eruptingforce of the central incisor the tooth might have shifted tomid-palatal region and also due to continued pressure fromthe erupting central incisor the root might have dilacerated.Since in most cases, the mesiodens is totally impacted(88.7%),5The increased frequency of mesiodens among developmentalanomalies, its deleterious effects on normalfunctioning, sometimes their asymptomatic nature when theyare impacted, emphasizes the importance of radiographicexamination of all children. Early diagnosis assists earlyintervention, more favorable prognosis and minimalcomplications.The cystic lesion was found in relation to both 21 andmesiodens. It was a diagnostic dilemma whether it is aradicular cyst due to periapcial infection of 21 or a dentigerouscyst arising from mesiodens. As majority ofmesiodens lead to a cyst formation, the possibility ofdevelopment of dentigerous cyst should be considered. Butthe patient’s history of trauma, clinical features consistingof long standing necrosis of 21, were strongly suggestedthat, cyst was a radicular rather than a dentigerous.Moreover, if it would be a dentigerous, the cyst shouldsurround the entire crown of the mesiodens. But the crownof the mesiodens found outside the cystic cavity excludingthe diagnosis of dentigerous cyst.From the present case report it was concluded that,because of the increased frequency of mesiodens and alsoits possibility of atypical location without any clinicalmanifestations for many years, justify the radiographicexamination of every child.


Splenosis is a rare condition that results from the autotransplantation of splenic parenchyma into unexpected locations such as the abdomen or subcutaneous tissue. In the presence of coexisting injury to the diaphragm intrathoracic transplantation can occur emerging as single or multiple pleural-based masses. This occurs after traumatic rupture of the spleen and is usually asymptomatic, only to be discovered incidentally on routine thoracic or abdominal imaging. To our knowledge this is the third documented case of combined intrathoracic and subcutaneous splenosis found in English literature. This occurred in a 71-year-old male involved in a motor vehicle accident at age 19 requiring urgent splenectomy. He has a significant cigarette smoking history and was referred to our hospital for further evaluation of an abnormality seen on shoulder X-ray. Splenosis is a rare condition that results from the autotransplantation of splenic parenchyma into unexpected locations such as the abdomen or subcutaneous tissue, usually after traumatic splenic rupture . In presWe report a case of combined intrathoracic and subcutaneous splenosis in a 71-year-old male involved in a motor vehicle accident at age 19 requiring urgent exploratory laparotomy and splenectomy. He had a significant smoking history and was referred to our hospital for further evaluation of an incidental abnormality seen on shoulder X-ray.A 71-year-old Hispanic male was referred to our institution for the evaluation of an incidental 4 cm left peripheral mid-lung opacity on shoulder X-ray  as well At the time of evaluation, he did not have any respiratory symptoms. His physical examination was unremarkable with the expected healed surgical scar at the left lateral abdomen. A computed tomography (CT) scan of the chest was ordered to better characterize the incidental lesion. This study revealed multiple pleural-based noncalcified masses, the largest measuring up to 7.2 centimeters, mild centrilobular and paraseptal emphysema, and two subcutaneous masses at the site of his 51-year-old healed abdominal incision Figures  and 4. TF-fluoro-2-deoxygluocose (FDG) positron emission tomography/CT (PET/CT) revealed the previously detected pleural masses to be only mildly FDG-avid . There wBecause of his risk factors for primary lung malignancy he underwent left sided video-assisted thoracoscopic surgery (VATS) and biopsy. Surgical specimens demonstrated pleural-based masses which were grossly friable and maroon-tanned. Histologically, two well-delineated areas compatible with white and red pulp were noted . OccasioSplenosis is a unique, acquired condition first described by von Kuttner in 1910 . It resuIn the presence of coexisting diaphragm abnormalities or injury intrathoracic implantation may occur leading to one or more pleural-based splenic nodules . This waSubcutaneous splenosis is exceedingly rare with less than 20 reported cases, 16 of which were recently reviewed by Papakonstantinou et al. They found that the majority of cases occur after gunshot wounds or, as with our patient, occur at the site of abdominal surgical scars [Splenosis is generally an asymptomatic condition but there have been thoracic cases presenting with pleurisy  and hemo99mTechnetium (Tc) labeled heat-damaged erythrocyte scanning is the preferred method because it is significantly more specific than 99mTechnetium sulfur colloid, indium 111-labeled platelet, or 99mwhite blood cell scanning due to diminished liver uptake [In patients with history highly suggestive of splenosis and without risk factors or symptoms indicative of malignancy diagnosis can be obtained nonsurgically using radionucleotide scintigraphy or Magnetic Resonance Imaging (MRI). r uptake , 17, 18.99mheat-damaged erythrocyte radionucleotide scanning. In general, MRI has significantly better resolution when compared to other imaging modalities and for this reason may be superior in the diagnosis of splenosis [An alternative noninvasive technique is Ferumoxide MRI . This meplenosis .In cases similar to our own where there is suspicion, malignancy risk factors, or inconclusive imaging studies a tissue biopsy should be obtained for definitive diagnosis. CT-guided fine needle Aspiration (FNA) could be employed when nodules are anatomically amenable. Unfortunately, without the histologic architecture provided by a resection, a small needle biopsy or FNA would not be able to differentiate the splenic elements from chronic inflammation, an intraparenchymal lymph node or a low grade lymphoma. However, the most important contributory information would be the absence of a carcinoma, mesothelioma, or metastatic disease. Ultimately, for thoracic lesions video-assisted thoracoscopic surgery (VATS) with biopsy can be used to obtain a tissue diagnosis. In very rare symptomatic cases this approach is diagnostic as well as therapeutic. Fine needle aspiration or surgical biopsies allow cytopathological analysis which may potentially rule out primary pulmonary malignancies, pleural malignancies, pleural-based metastatic disease, lymphomas, and other varieties of cancer. Histologically ectopic splenic tissue is similar to normal spleen with encapsulated parenchyma consisting of red and white pulp with lymphoid follicles. Neisseria meningitidis, Streptococcus pneumoniae, and Haemophilus influenzae [Because splenosis is generally asymptomatic, surgical excision of ectopic splenic nodules is often unnecessary and may subject patients to unnecessary surgical risks –23. Morefluenzae . Despitefluenzae . Anecdotfluenzae . Neverthfluenzae . Considefluenzae  it is stfluenzae .99mTc labeled heat-damaged erythrocyte scintigraphy or Ferumoxide MRI. Should risk factors for malignancy be present or the aforementioned studies be inconclusive a CT-guided FNA or VATS with biopsy can be performed to rule out malignancy and obtain a definitive diagnosis. Even though the immunologic functionality of ectopic splenic tissue is debated surgical excision is not recommended unless the patient is symptomatic.To conclude, we present the third documented case of combined thoracic and subcutaneous splenosis , 30. Thi


It is a rare entity and could be due to benign or malignant disease. The gastric or colonic adenocarcinoma is the most common malignant cause, while lymphoma is rarely reported. The cornerstone for detecting the fistula remains the barium enema. Barium meal and computed tomography are alternatives for the diagnosis. Gastroscopy and colonoscopy are not first-line examinations to bring out the GCF, but they must be used to obtain cytological and biopsy materials. The therapy for GCF remains surgical. A 36-year-old woman had a non-Hodgkin's gastric lymphoma for 15 years ago treated by chemotherapy. After complete remission, she presented with abdominal pain, fecal halitosis, feculent vomiting, chronic diarrhea and weight loss of 15 kg. A palpable mass in the left hypochondriac region was found on abdominal examination. Gastroscopy revealed a vegetating tumor on the fundus with fistulous orifice in the great curvature of the stomach. Barium meal showed early opacification of the colon and a fistula between the stomach and transverse colon (A). Abdominal CT demonstrated a wall thickening of the great curvature of the stomach with GCF (B). There is neither adjacent nor distant involvement by the lymphoma. According to Lugano staging system, the lymphoma was classified as stage IIE. The patient was prepared for an


A 59-year-old man presenting with fecal occult blood visited our hospital. He was diagnosed with advanced lower rectal cancer, which was contiguous with the prostate and the left seminal vesicle. There were no metastatic lesions with lymph nodes or other organs. We performed laparoscopic total pelvic exenteration (LTPE) using transanal minimal invasive surgery technique with bilateral en bloc lateral lymph node dissection for advanced primary rectal cancer after neoadjuvant chemoradiotherapy. The total operative time was 760 min, and the estimated blood loss was 200 ml. LTPE is not well established technically, but it has many advantages including good visibility of the surgical field, less blood loss, and smaller wounds. A laparoscopic approach may be an appropriate choice for treating locally advanced lower rectal cancer, which requires TPE. Total pelvic exenteration (TPE) was first described by Brunschwig as a palliative treatment for the terminal stages of advanced pelvic malignancies . AlthougA 59-year-old man was admitted to our hospital for the treatment of a rectal tumor.The tumor was found via colonoscopy during an examination at a medical checkup. The colonoscopy revealed an ulcerated tumor at the anterior rectum, 4 cm from the anal verge. Histopathologic examination revealed moderately differentiated adenocarcinoma. CT and MRI scans showed that the rectal tumor was contiguous with the prostate and the left seminal vesicle. PET-CT showed no evidence of metastasis. The carcinoembryonic antigen (CEA) level was elevated at 105.1 ng/mL. After neoadjuvant chemoradiotherapy (CRT) , CEA level decreased to 24.3 ng/mL but the size of the tumor and the degree of invasion were unchanging . Next, the left ureter was dissected to the level of the ureterovesical junction, where it was clipped and divided. The surgeon moved to the patient’s left side, and the same procedure was performed for the right ureter after mobilizing the cecum to the level of the duodenum. We did not place ureteral catheters. The superior hypogastric nerve was divided at the level of the aortic bifurcation. The surgeon moved to the patient’s right side again and dissected the posterior rectal space. After recognizing the left internal iliac vessels, the left vas deferens was clipped and divided. The branches of left internal iliac artery were clipped and divided until the entry point to Alcock’s canal. Left en bloc lateral lymph node dissection was performed, and the same procedure was then performed on the right side. Bilateral obturator nerves were preserved. After dissecting the dorsal cavity of the rectum to the level of the levator ani muscle, the prerectal peritoneum was incised and the medial ligament was clipped and dissected. The Retzius space was dissected, and the dorsal vein complex (DVC) was exposed after incising the bilateral puboprostatic ligament and the endopelvic fascia  was set using the transanal minimal invasive surgery (TAMIS) technique. Three small ports were installed, and perirectal tissue and muscles were dissected until we reached the abdominal cavity under the pneumoperirectum Fig. . The entAn ileal conduit and a sigmoidostomy were then constructed extracorporeally through the extended umbilical incision. The total operative time was 760 min, and the estimated amount of bleeding was 200 ml. The postoperative course was good, and the patient was discharged on postoperative day 15. Histopathological analysis revealed no apparent invasion of the tumor to adjacent organs, and the pathological stages were ypT3 and ypN0.Currently, laparoscopic technique is used for various surgeries; thus, opportunity to perform laparoscopic surgery has increased for many surgeons. The laparoscopic approach has advantages not only for patients but also for surgeons, i.e., less pain, smaller wounds, earlier recovery, and a magnified view. LTPE is a challenging and complicated operation, but some studies have reported on the safety and feasibility of it not only for urologic or gynecologic malignancies , 7 but aDuring the anal-side procedure, we used the TAMIS technique. With the TAMIS technique, we could keep a good visual field even after penetration to the abdominal cavity because the pressure of pneumoperirectum can be kept by the pneumoperitoneum. In addition, the perineal wound becomes smaller, which may lead to reduction in the perineal surgical site infection, and pnuemoperirectum can reduce the amount of bleeding. In the middle of the procedure, the wound retractor broke due to contact with the blade of the Sonicision™ (Covidien) and the pneumoperirectum could not be kept thereafter, which will require further attention.In conclusion, LTPE is a potentially safe and feasible procedure. However, reports on LTPE for advanced rectal cancer are scarce; therefore, more studies are necessary to evaluate the long-term safety of LTPE.A consent was obtained from the patient for publication and presentation, when we obtained an informed consent for surgery.


Primary retroperitoneal transitional cell carcinomas (TCCs) are extremely rare neoplasms for which prognosis is very poor. We present a case that underwent complete remission after radiotherapy and concurrent oral chemotherapy. A 68-year-old woman presented with acute onset of bloody stool. Urgent colonoscopy only detected haemorrhoids. Subsequent abdominal ultrasonography revealed a mass of 7cm in maximal diameter in the left iliac fossa. Laparotomy disclosed a retroperitoneal mass that could not be dissected and therefore only incision biopsy was performed. After a final diagnosis of primary retroperitoneal TCC, chemotherapy with tegafur-uracil (UFT) was initiated but was not effective. Subsequently, radiotherapy was initiated concurrently with UFT at a total dose of 50Gy in 25 fractions. At 20 months after radiotherapy, the tumour seemed to have completely remitted. At the last follow-up, ten years from radiotherapy, computed tomography revealed no recurrence.We identified only three single case reports regarding primary retroperitoneal TCC over the last five decades. All patients died from the tumour 8−24 months after diagnosis or treatment. Based on the success of our case, radiotherapy with concurrent oral chemotherapy should be considered as an option for unresected cases. A 68-year-old woman presented at a neighbouring hospital with acute onset of bloody stool in August 2001. She had received a subtotal gastrectomy for a gastric ulcer 20 years previously but was taking no medication at presentation. Physical examination revealed mild tenderness in the left lower abdomen. Urgent colonoscopy disclosed only haemorrhoids. Subsequent abdominal ultrasonography revealed a mass of 7cm in maximal diameter in the left iliac fossa. On pelvic examination, a hard mass was palpated on the left side of the normal-sized uterus and was unmovable. Serum CA125 was increased to 484.2u/ml  but CA19-9 and routine blood tests were normal.Abdominal computed tomography (CT) and pelvic magnetic resonance imaging (MRI) revealed a mass approximately 5cm × 7cm × 7cm in size in the left pelvic wall  and 2. NLaparotomy disclosed a retroperitoneal mass extending caudally to the lesser pelvis. A normal-appearing left ovary and left uterine tube were located inside the mass. The other intrapelvic organs were normal. A small amount of ascites was observed without intraperitoneal implants. The mass could not be dissected and therefore only incision biopsy was performed. Histology revealed a transitional cell carcinoma (TCC) without any ovarian tissues . Cytolog2/day was initiated in an outpatient setting because the patient and her family hoped to avoid any invasive treatment. At two months from the initiation of chemotherapy, the patient complained of swelling in the left leg in spite of a slight decrease in serum CA125 level (304.5u/ml). One month later, abdominal CT revealed a growing mass 8cm × 8cm × 8cm in size but no nodal or distant metastases. Serum CA125 was again increasing (351.0u/ml). Radiotherapy using a three-dimensional conformal technique was initiated in March 2002.In November 2001 oral chemotherapy with tegafur-uracil (UFT) at a dose of 300mg/m2/day because of leucopoenia.At the end of radiation of 50Gy in 25 fractions, oedema in the left leg had almost disappeared and there was a prominent decrease in serum CA125 (25.5u/ml) but the tumour showed almost no change in size on CT. The chemotherapy was continued during and after the radiotherapy. From February 2003 the drug was administered at a smaller dose of 100mg/mIn November 2003, at 20 months from initiation of radiotherapy, the tumour had almost disappeared except for a tiny nodule detected on follow-up CT . Until tIn November 2006 the patient received a left mastectomy for breast cancer followed by a single course of adjuvant chemotherapy. In January 2007 she underwent adjuvant hormonal therapy.In December 2008 pelvic CT revealed the tiny nodule still present without any change in appearance and size. Although tumour markers were not examined at that time, the tumour seemed to have already attained complete remission. Consequently, chemotherapy was ended. From the initiation of chemotherapy, interruptions had occurred four times owing to leucopoenia or adjuvant chemotherapy for breast cancer.The last follow-up CT in May 2012, ten years from initiation of radiotherapy, revealed no recurrence. The patient had been well and was receiving adjuvant hormonal therapy.Primary retroperitoneal TCCs are extremely rare entities. We could identify only three single case reports published in the last five decades.Serum CA125 is a clinically useful marker of tumour response or recurrence but not very helpful in differentiating the exact origin of the tumour. In our case, serum CA125 was increased before radiotherapy but had decreased steeply at the end of radiotherapy. At that time, the tumour had not changed in size but was finally completely remitted. Therefore, in our case, the decline in CA125 seemed to be a predictor for tumour response.The tumour had almost disappeared in November 2003. Furthermore, during the subsequent 8.5 years until the last follow-up appointment in May 2012, there was no recurrence detected on CT or by serum CA125 levels. Accordingly, complete remission of the tumour seemed to have been attained as late as November 2003.et al: (i) heterotopic ovarian tissue; (ii) monodermal variant of teratomas; (iii) embryonal urogenital remnants; (iv) intestinal duplication; and (v) coelomic metaplasia.Concerning the origins of this retroperitoneal tumour with cystic components, the following five major hypotheses were proposed by Pearl Because of the paucity of experience in the treatment of primary retroperitoneal TCCs, each patient should be individualised. Our patient was cured with radiotherapy and oral chemotherapy but the role played by continued administration of the oral drug following radiotherapy remains unknown. Nevertheless, based on the success of our case, radiotherapy with concurrent oral chemotherapy should be considered as an option for unresected cases.


Clear cell sarcoma is a rare cancer primarily of tendons, fascia, and aponeuroses that can be difficult to discern from primary cutaneous malignant melanoma. The two cancers share several histological markers, with most cases of both cancers staining positively for S-100, HMB-45, and melanin. Primary therapy of both cancers involves wide local excision, but while systemic therapy has proven benefit for malignant melanoma, it has not been established for clear cell sarcoma.We report the case of a 58 year old woman with a large, ulcerated, fungating mass on her left lower leg. Frozen section of the mass showed a malignant epithelioid and spindle cell tumor confined to the subcutaneous tissue. A provisional diagnosis of soft-tissue sarcoma was made. Through in-depth study of initial biopsy with immunohistochemistry for S-100, HMB-45, MART-1, and MITF, along with karyotyping and FISH analysis for EWS gene rearrangement, the diagnosis of amelanotic malignant melanoma was confirmed. The patient then underwent systemic treatment with ipilimumab upon recurrence with good response.http://www.diagnosticpathology.diagnomx.eu/vs/1989338475107348.The virtual slide(s) for this article can be found here:  Primary cutaneous malignant melanoma (MM) is an aggressive cancer of melanocytes that causes 75% of skin cancer deaths . The prePrimary cutaneous malignant melanoma can be very similar to, but is distinct from, clear cell sarcoma of tendons and aponeuroses (CCSTA) . CCSTA oWe present the case of a 58 year old female who posed a diagnostic challenge, as her lesion was initially considered to be a soft tissue sarcoma based on gross morphology and imaging findings of the mass. However, after a detailed work-up she was diagnosed with amelanotic malignant melanoma and responded to systemic therapy.A 58 year old woman presented to the emergency department with a bleeding mass on the medial aspect of her lower left leg. Three years prior, she sustained a burn to that area of her leg resulting in a scar. One year ago, she sustained minor trauma to that region leading to a small painless bump that slowly progressed in size. She noticed bleeding from the mass, which prompted her to seek medical attention. Upon presentation to the emergency department, the bleeding had stopped.The patient denied constitutional symptoms of fever, chills and night sweats or recent weight loss. She had no numbness, tingling or localized weakness. There was no history of cancer in the family. The patient was married and worked as a sales clerk. She was a non-smoker and did not drink alcohol.Examination showed a multiloculated and fungating soft tissue mass measuring 15 cm × 18 cm × 5 cm, with interspersed areas grossly consistent with necrosis. Neurologic function was normal distal to the mass with intact ability to flex and extend both the ankle and toes painlessly. A 6–8 cm non-fungating, palpable mass was also noted in the left thigh near the groin. Both masses were non-tender. In addition, right supraclavicular and bilateral axillary lymphadenopathy was appreciated.The mass was suspected to be a soft tissue sarcoma. Staging abdominal, pelvic, and chest CT was performed and the patient underwent surgical amputation of the left leg below the knee, as well as excision of masses in the following locations: left groin 16 cm), right supraclavicular (3 cm), left anterior shoulder (3 cm), right wrist, left mid-back, right posterior axilla, and right lateral breast. The patient tolerated the lengthy procedure well. Biopsy of the mass showed sheets and nests of epithelioid and spindle tumor cells within the superficial and deep dermis and subcutis, with the epidermis uninvolved. On permanent section, tumor cells showed no evidence of melanin pigment on Fontana Masson stain (not shown), but S-100 protein, HMB-45, MART-1, and MITF were all positive in the tumor , the massive and hemorrhaging nature of the leg tumor masked whether the tumor origin cells came from the skin or soft tissue, and histologic markers of CSSTA and MM are very similar.In the end, definitive diagnosis was made due to the fast-growing and widely disseminated nature of the cancer, positive staining with MART-1 and MITF, and FISH analysis revealing normal EWS gene. Although the original resection was performed before the definitive diagnosis was made, the thorough analysis eventually led to the proper diagnosis of MM, which allowed for treatment with ipilimumab upon recurrence with good response.Written informed consent was obtained from the patient for publication of this Case Report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.MM: Malignant melanoma; CSSTA: Clear cell sarcoma (of tendons and aponeuroses); HMB-45: Human melanocyte black 45; MART-1: Melanocyte antigen recognized by T-cells 1; MITF: Microphthalmia-associated transcription factor; FISH: Fluorescence in-situ hybridization; EWSR: Ewing sarcoma breakpoint region.The authors declare that they have no competing interests.BW performed chart review, literature review, and primary composure of written case report. NE performed chart review, literature review, correspondence with treatment team, and made substantial contribution to composure of the written case report. RMF performed histologic analysis, provided histologic images, and contributed to editing of the written case report. All authors read and approved the final manuscript.BW is an MD candidate in the class of 2014 at the University of Wisconsin School of Medicine and Public Health in Madison, WI. NE is a hospitalist and clinical researcher at Marshfield Clinic/St. Joseph’s Hospital in Marshfield, WI. RMF is pathologist with expertise in anatomic pathology and neuropathology at Marshfield Clinic in Marshfield, WI.


Dermatofibrosarcoma protuberans (DFSP) is a malignant fibrohistiocytic tumor that appears exclusively on the skin. It is a low-grade malignant soft tissue tumor of subcutaneous tissues that has a propensity for local recurrence but seldom metastasizes. It may rarely occur on the head and neck accounting for less than one percent of total head and neck malignancies. We present a man with a giant DFSP on the face. Oncological, functional, and aesthetic aspects are set forth. Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant tumor that represents the most frequent skin sarcoma. A low percentage is located in head and neck , 2; it gA thirty-year-old male patient, previously healthy, presented to Department of Dermatology with an oval, slow growing, indolent, and disfiguring tumor on the left side of the face. The lesion had begun as an asymptomatic skin-colored, small nodule, two years before, gradually increasing until it got an enormous size of 10 × 6 cm .Physical examination revealed a painless, dome-shaped, skin-colored, firm tumor, furrowed by telangiectasias that caused ectropion and mouth deviation. There were no clinical signs of oral or nasal mucosa involvement as well as no cervical or submaxillary lymphadenopathy; teeth showed no signs of disease.A computed tomographic 3D scan of head and neck was performed, showing a vascularized tumor, with hypointense signal in T1 and hyperintense signal in T2 and a heterogeneous reinforcement after intravenous contrast administration. Tumor seemed to erode the underlying jawbone. Mucosal compromise or lymphadenomegaly were not seen.Incisional biopsy specimen showed a mesenchymal neoplasm of spindle cells leaving a Grenz zone and mimicking a storiform pattern with scarce mitosis in the deeper layers Figures  and 3. NDue to the lack of access to the gold standard treatment of Mohs micrographic surgery, the patient underwent wide surgical resection (WSR) of the tumor with a margin of 2 cm where possible. Where there was no possibility for such margins, resection was extended to muscular, aponeurotic, and periosteal planes. Special care was taken to preserve left eye, parotid gland, and facial nerve.Histopathological examination of the surgical specimen confirmed negative margins and no periosteal compromise; in several areas, margins were informed as less than 1 cm. A pectoralis major myocutaneous flap was the therapeutic choice to repair the enormous defect left by the removal. Recovery was uneventful and the patient was discharged after seven days. Due to the reduced margins obtained in order to keep the left eye, adjuvant treatment was indicated. Despite being informed about the high risk of recurrence, the patient refused to receive any further therapy. Neither radiotherapy nor immunotherapy was done. For this reason, his treatment was considered suboptimal so a periodical screening for tumor relapse was indicated. Trimestral physical examination and CT scan showed no signs of recurrence or distant metastasis after 36-month follow-up .The first mentions of this tumor dating from 1924 described a rare low-grade soft tissue sarcoma . DFSP afIts annual incidence is between 0.8 and 4.5 per million and represents the most common skin sarcoma , 7.In first stages, it manifests as an indurated nodule that later evolves to a violaceous to red-brown irregular plaque or tumor of several centimeters in diameter fixed to dermis. It is usually asymptomatic and telangiectasias can be seen in surface. In our case, the clinical characteristics were atypical because of the tumor's smooth surface and hemispheric shape. Because of that, a DFSP diagnosis was not given on the first approach. DFSP seldom metastasizes, either to regional lymph nodes or to distant lymph nodes. However, it is locally aggressive and highly recurrent , 4, 8, 9Histological features show a spared epidermis with cellular proliferation in dermis and honeycomb pattern of infiltration into the subcutis. This proliferation is composed of spindle cells with minimal pleomorphism and low mitotic rate , 10. FibThe treatment of DFSP is essentially surgical , 9. WSR As DFSP located on the extremities and especially on the head and neck have historically had much higher rates of recurrence than those on the trunk, primarily because it can be difficult, if not impossible, to achieve wide margins in these anatomical locations, it is imperative to design an individualized surgical approach in each patient. Surgery and adjuvant therapy recommendations are necessary for these unusual situations.Imatinib mesylate is the adjuvant therapy approved for the treatment of unresectable, recurrent, or metastatic DFSP in adult patients , 9, 16. Local recurrences of DFSP are frequent. Half of them are seen in the first year after surgery, but they can also occur more than five years after treatment. Head and neck is the location with more incidence of local recurrence , 15, 18.Our case is unique in several aspects. It was a giant, dome-shaped, and well delimitated DFSP over the face and although he was not able to receive gold standard treatment with MMS or adjuvant imatinib, no local recurrence or distant metastasis was seen at 36-month follow-up after surgical resection with narrow margins raising the issue that probably there are other prognostic factors, besides the margins, to predict recurrence.


Neuroendocrine carcinomas (NECs) of the esophagus are very rare. The majority of the patients with NECs present with metastasis. Paraneoplastic syndromes, such as syndrome of inappropriate secretion of anti-diuretic hormone and watery diarrhea-hypokalemia-achlorhydria syndrome, have been reported in previous reports. Esophageal NECs are related to a poor prognosis. A 38-year-old male with the histologic diagnosis of esophageal NEC, which initially manifested as hypertrophic osteoarthropathy (HOA), later developed brain metastases. He was initially treated with neoadjuvant chemotherapy consisting of cisplatin and etoposide followed by a partial esophagectomy in November 2009. At follow-up in February 2010, he complained of a headache that prompted imaging. MRI of the brain revealed a left frontal lobe lesion. Subsequently, he underwent a craniotomy and resection of the lesion. Pathological analysis revealed that the lesion was consistent with metastatic disease from the primary esophageal NEC. The patient underwent 40 Gy whole brain radiotherapy (WBRT), followed by two weeks of stereotactic radiation (SRS) to the tumor bed for an additional 12 Gy. During this time, his tumor marker neuron-specific enolase (NSE) initially dropped but later increased, which led us to offer him radiotherapy to the remaining esophagus to be followed by localized radiation to areas immediately adjacent to the surgical site, followed by six cycles of systemic chemotherapy consisting of cisplatin and irinotecan. Finally, his NSE normalized around the end of systemic chemotherapy. Surveillance imaging in 2015 - six years from initial diagnosis - showed no evidence of cancer. Of interest, treatment of the esophageal NEC also led to clinical resolution of his musculoskeletal symptoms, including his HOA. High-grade esophageal NECs are rare, aggressive, and have a poor prognosis. HOA can be a presenting sign associated with a high-grade esophageal NEC. The predominant site of metastatic spread is the liver, but metastases to rare sites, such as the brain, can occur, as was the case in our patient. Better survival has been reported for patients with locoregional disease compared to patients with distant metastases. However, multidisciplinary management can lead to an improved outcome in selected patients with distant metastases. Neuroendocrine carcinomas (NECs) of the esophagus are very rare with a reported incidence of 0.05% - 2.4% of all esophageal cancers . PatholoEsophageal NECs are related to a poor prognosis -4. No opWe herein report a case of esophageal NEC, who initially manifested with hypertrophic osteoarthropathy (HOA) and subsequently developed brain metastases.Informed patient consent was obtained prior to treatment.18F-fluorodeoxyglucose (18F-FDG) avid lesion in the distal esophagus. A subsequent esophagogastroduodenoscopy (EGD) was performed and biopsies of the mass were obtained. The histologic analysis of the biopsies showed esophageal NEC with round to spindle-shaped cells with scanty cytoplasm, granular nuclei, and inconspicuous nucleoli. Immunohistochemical (IHC) analysis revealed a population of cells positive for synaptophysin, CD56, chromogranin, K11, and epithelial membrane antigen (EMA). The sample was negative for TTF-1, CK5, Lu5, and CK20. A proliferative index (Ki-67) was 80%. Therefore, the final diagnosis was consistent with a poorly differentiated (high-grade) NEC of the esophagus and staged as a T2 N1 M0 esophageal cancer, according to the TNM/staging classification for esophageal carcinomas. Peripheral blood testing showed normal levels of complete blood counts, chemistry, and all the basic biochemical parameters, including the tumor markers , except for a neuron-specific enolase (NSE) of 15.5 ng/mL .A 38-year-old male Caucasian postdoctoral researcher with a history of smoking as a teenager and hyperthyroidism presented to a rheumatologist with an eight-month history of progressive pain and swelling of multiple hand joints, knees, and ankles bilaterally. He drank alcohol only socially. However, he informed us that he might have been exposed to radiation while working in the laboratory. Laboratory workup showed no abnormalities. Initially, he was treated conservatively with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids. However, his symptoms did not abate. Further evaluation by the rheumatologist, including bone scintigraphy with Tc-99m MDP (methylene diphosphonate), showed periosteal proliferation of the tibia and fibula consistent with hypertrophic osteoarthropathy (HOA). This diagnosis led to further investigations, and an attempt to look for an associated malignancy was initiated. He denied any systemic hormone syndromes, such as flushing or diarrhea. CT scans of the abdomen, pelvis, and chest suggested an esophageal tumor. Positron emission tomography-computed tomography (PET/CT) was performed and revealed an After discussion in a multidisciplinary meeting, the patient was started on neoadjuvant chemotherapy consisting of cisplatin and etoposide. He completed three cycles of therapy (three months) prior to proceeding with a partial esophagectomy with a gastric pull-through in November 2009. He recovered well in the postoperative setting. At his three month follow-up in February 2010, he complained of a headache that prompted imaging. MRI scan of the brain revealed a left frontal lobe lesion. He subsequently underwent a craniotomy and resection of the lesion. Pathological analysis revealed that the lesion was consistent with metastatic disease from the primary esophageal NEC. Further assessment with somatostatin scintigraphy did not reveal sites of uptake. The patient underwent whole brain radiotherapy (WBRT) with 40 Gy followed by two weeks of stereotactic radiation (SRS) to the tumor bed for an additional 12 Gy. During this time, his NSE rose to 37.6 ng/mL on May 21, 2010, dropped to 13 ng/mL, and then again rose to 41 ng/mL.The patient received a total of 54 Gy external beam radiation to the remaining esophagus, including the adjacent surgical site, from mid-April until the end of May 2011. In addition, an additional boost of 45 Gy was administered to the region of the chest. This was followed by six cycles of systemic chemotherapy consisting of cisplatinum and irinotecan. Finally, his NSE normalized at 5.6 ng/mL around the end of the systemic chemotherapy. After that, he was closely monitored with scans every three months. Over the course of the past five years, his clinical status has remained largely stable. Periodic laboratory surveillance measuring the NSE has remained below the upper limit of normal. Chromogranin A levels have fluctuated between normal and mildly elevated levels. Surveillance imaging has been negative for recurrence of disease within the brain and thorax when last seen in 2015, six years from his initial diagnosis. Of interest, treatment of esophageal NEC also led to clinical resolution of his musculoskeletal symptoms, including HOA.Esophageal NECs are of exceedingly rare occurrence -2. Most As is for other types of tumors, esophagectomy with curative intent is commonly used in locoregional disease. Unfortunately, surgery alone is not commonly associated with long-term survival. Similarly, radiotherapy alone also led to dismal outcome . TherefoInterestingly, our patient first manifested HOA. HOA is a syndrome characterized by proliferative changes in the skin and skeleton. In addition, it may also comprise of proliferative periostitis of the long bones, oligopoly synovitis, and digital clubbing. There are two types of hypertrophic osteoarthropathy: primary and secondary. Only 3-5% of patients have primary HOA while the remaining 95-97% have secondary HOA, commonly associated with many disease conditions of the cardiovascular system and hepatobiliary gastrointestinal system as well as in malignancies. Lung and breast cancers are the most common tumors that produce HOA. HOA is extremely rare in patients with esophageal cancer; however, medical literature indicates that HOA may be the first manifestation of esophageal cancer in a few cases and may delay the diagnosis of fatal cancer if not diagnosed early [Another interesting finding in our patient was the elevated NSE, which was utilized as a tumor marker. NSE is present in the cytoplasm of most neuroendocrine cells . The senIn summary, high-grade esophageal NECs are rare, aggressive, and have a poor prognosis. HOA can be a presenting sign associated with a high-grade esophageal NEC. The predominant site of metastatic spread is the liver but rare metastatic spread to sites, such as the brain, can occur, as seen in our patient. Chromogranin A levels are the commonly used tumor markers, but NSE can be used in selected cases. The prognosis of esophageal NEC correlates with the grade and stage of the disease. Better survival has been reported for patients with locoregional disease compared to patients with distant metastases. However, multidisciplinary management can lead to an improved outcome in selected patients with distant metastases. Combined treatment consisting of chemotherapy, radiotherapy, and surgery can offer an effective outcome. Platinum-based systemic chemotherapy forms the backbone of treatment for these NET.