Purpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients  and we conducted a literature search on PubMed Central using the key terms “adult” or “pediatric” and “atypical teratoid/rhabdoid tumor”. We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. Results: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. Imaging findings: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. Conclusion: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination. Atypical teratoid rhabdoid tumor (ATRT) is a rare highly malignant embryonal tumor of the central nervous system (CNS), classified as grade four in the 5° edition of the WHO classification for CNS tumors ,2. ATRT ATRT was reported in different locations of the CNS, but it is rare in the cerebellopontine angle cisterns, meninges, cranial nerves, spinal canal, and extradural sites ,6,7,8.The diagnostic process for ATRT is challenging because of variable location, histopathologic complexity, the disparity in cytogenetic data, and the lack of specific radiological features.Often, ATRTs’ imaging features are shared with other embryonal tumors or high-grade lesions especially when they are small or in an unusual site of the brain ; howeverTimely diagnosis of ATRTs is critical because these tumors require earlier, more specific, and more aggressive therapy than other high-grade cancers . To dateHerein, we present a case series coupled with a review of the literature to assess the main clinical, pathological, and imaging features of ATRTs in adults and in the pediatric population. Moreover, we propose a diagnostic paradigm with clinical and imaging evaluation useful for recognizing these rare cancers.We searched PUBMED/MEDLINE (until September 2022) using the MeSH-term “adult” or “pediatric” and “atypical teratoid/rhabdoid tumor”. Literature revision was performed independently by two pediatric neuroradiologists and studies were chosen by consensus.The titles, abstracts, and full texts were reviewed to find potentially eligible articles.We selected manuscripts written in English of prospective or retrospective studies focusing on the imaging and genetic analysis of ATRT in children and adults. Articles including non-CNS rhabdoid tumors, isolated case reports, unavailable full text, conference, and journal abstracts were excluded. Publications with duplicated information or missing data of interest were further excluded.Finally, selected papers were included for data extraction and evaluation. The following items were extracted from eligible articles: demographics, tumor location, preoperative imaging features, presence of intracranial and/or spinal metastasis at diagnosis, histopathologic findings, genetic data, surgery, therapy, and length of survival. Some clinical, radiological, and histopathological data were used to generate a diagnostic paradigm and guide the differential diagnosis of ATRT. We considered “distinctive” signs those findings radiologically or clinically relevant for the diagnostic process, while “not specific” signs were those resembling other brain tumors and therefore not peculiar for diagnosis.At our university hospital, we interrogated our clinical records and found clinical and pathological records, as well as imaging data, from 11 patients treated for ATRT of the CNS. In all patients, the diagnosis was confirmed by neuropathology.We extracted the following variables: gender, age at presentation, imaging features, extent of surgery , complications, adjuvant therapy, and length of survival measured from the time of diagnosis to the date of death or the date of last contact.The preoperative computed tomography (CT)  and magnetic resonance imaging (MRI)  were retrospectively reviewed.For image reading, we applied standardized criteria: localization , structure of the origin, maximum size of tumor on the axial plane (in mm), homogeneous versus heterogeneous T2 signal, restriction in diffusion-weighted imaging , presence of peripheral cysts and peritumoral edema (no/minimum/extensive), signs of intratumoral hemorrhage, and bone involvement. After gadolinium administration, enhancement degree (no/minimum/mild/strong and presence of the characteristic “bandlike” pattern) and meningeal dissemination were recorded.Images were assessed by two pediatric radiologists with 14 years of experience in neuroradiology blinded to pathological diagnosis. Discordances were resolved by consensus.The dataset was analyzed using descriptive statistics expressed as mean ± SD for continuous variables and as numbers and percentages for categorical variables.We found 658 articles about ATRT. We excluded 554 articles because they were letters, editorial, isolated case reports, or non-English papers. Moreover, 49 publications were duplicated articles or studies that did not fit with the aim of this review, and they were excluded. A total of 55 articles were selected (31 focused on children and 24 on adults); they covered different topics related to ATRT, such as imaging appearance , clinical features , histopathological findings, and genetic mutations  .INFANTS/CHILDREN. In previous series about pediatric patients with ATRT, the clinical and histopathological features were described; however, only a few papers have assessed imaging findings .Rorke and Biegel  reportedThe treatment for pediatric patients with ATRTs included the attempt to obtain total resection, followed by chemotherapy (ChT) and radiotherapy (RT) whenever the child’s age and clinical status allowed it ,16,17,18Imaging features of ATRTs have been described in small case series ,23,24. TADULTS. The most complete studies in adult ATRT patients were by Broggi et al.  and ChanRadiological findings of ATRTs were derived mainly by small case series ,31 and oKanoto et al.  describeThe clinical characteristics of the enrolled patients are shown in The most common symptoms at presentation were related to increased intracranial pressure and included macrocephaly (no. five patients), vomiting (no. three patients), headache (no. two patients), ptosis (no. one patient), strabismus (no. one patient), diplopia (no. one patient), and seizure (no. two patients). Six patients had acute hydrocephalus at the time of presentation.Unenhanced CT (NECT) was performed in five patients while MRI was performed in all patients.Four tumors were in the posterior fossa (floor of IV ventricle) and seven were in the supratentorial compartment . There was a particular left lateralization in the supratentorial compartment except for the only adult whose sellar/suprasellar lesion had midline location. On the other hand, all infratentorial tumors involved the floor of IV ventricle and grew on midline. Only three out of four SMARCB1 mutated ATRTs located in PCF were classified according to DNA methylation profiling (two ATRT-tyrosine and one ATRT- sonic hedgehog tumors) .ATRTs in pediatric patients were large at the diagnosis (average 50 × 40.3 mm). Four tumors were predominantly solid , while six were heterogeneous tumors with solid and cystic components. Almost all cysts were peripherally located and more frequent in the supratentorial compartment, five of our cases (50%) had calcifications, and four (40%) had intratumoral hemorrhage. Perifocal edema varied but was more frequent in the supratentorial compartment than in the infratentorial compartment, ranging from minimum to extensive. The solid part of these tumors showed restricted diffusion compared with normal brain parenchyma in nine patients, (hyperintensity on DWI and hypo-intensity in ADC), indicating high cellularity of the tumor. Contrast enhancement was noted in nine patients  while in only one patient, tumor in PCF did not show any enhancement .The adult-onset sellar-suprasellar tumor was predominantly solid and homogeneous and did not show restricted signal on DWI or edema but showed destruction of the clivus bone .In four pediatric patients (40%), tumors showed leptomeningeal spreading at diagnosis, either in intracranial cerebrospinal fluid (CSF) or in intracranial and spinal CSF .Gross total resection was achieved in four pediatric patients, while subtotal resection was achieved in seven patients (six children and one adult). Ten out of eleven patients received chemotherapy, of which three patients also had high-dose chemotherapy and autologous hematopoietic stem-cell transplantation (two pediatric and one adult); only two patients also received RT (one child and one adult). Most of the patients died in four–nine months, while those patients treated with high-dose chemotherapy and radiotherapy had a longer outcome after diagnosis, although one of them was in disease progression. The only pediatric patient who did not receive therapy died after 20 days .ATRT is a rare pediatric tumor, and it is even more rare in adults. Because imaging characteristics of ATRTs may overlap with other CNS tumors, preoperative diagnosis of ATRTs are a challenge and they are often misdiagnosed. The available clinical literature mainly consists of reviews of case series reporting clinical features and outcomes both in pediatric and adult ATRTs, while the available radiological literature consists of isolated case reports and small case series. By combining the available literature with the radiological and clinical findings of our case series, we built a stepwise paradigm for ATRT diagnosis, capable of improving radiological recognition of this rare cancer .The clinical symptoms are nonspecific because they mainly depend on the location of the tumor and its mass effect on the CNS . As alsoAge. Although rare, ATRTs are mainly found in infants and in children below 3 years of age ,20, as cThe radiologic assessment is crucial for the pre-operative diagnosis of ATRT. To effectively reach a diagnosis, a standardized approach using CT and MRI should be taken into account by considering several features.Locations. ATRT may arise in either the supratentorial or infratentorial areas ; often, In the posterior fossa, ATRTs are usually located around the floor of the fourth ventricle and three subgroups corresponding to the region of origin from the fourth ventricle were reported: the superior medullary velum (SMV), cerebellopontine angle (CPA), and inferior medullary velum (IMV) . Some stIn adults, rhabdoid tumors are frequently supratentorial, whereas the most common intracranial location is suprasellar (46%), followed by the cerebral hemispheres (32%), while only rare cases are in the cerebellum and in the spinal cord . Johann Considering both adults and children, very rare cases of ATRTs were detected in extra-axial locations including the intraventricular site and cerebellopontine angle. Other cases originated from the cranial nerves, brainstem, and spinal cord or primarily affected the leptomeninges; in the latter case, the tumor is termed as primary diffuse leptomeningeal ATRT ,7,49,50.Tumor size. It has been reported that the tumor’s volume at diagnosis is related to the supra- or infratentorial localization rather than to molecular subgroups characteristics . AccordiTumor’s characteristics. Several aspecific imaging features such as intratumoral hemorrhage, calcifications, cysts, high cellularity of the solid component, and heterogenous enhancement have been reported ,25,51,52In our case series, one pediatric supratentorial ATRT showed a “wavy” bandlike pattern and one pediatric infratentorial ATRT had no enhancement; however, the lack of molecular analysis in all our patients does not allow us to evaluate the relationship between enhancement and the molecular subgroup.Leptomeningeal dissemination detected by contrast enhancement imaging is common in ATRTs and may guide the diagnosis; the proximity to the ventricles could explain the frequent leptomeningeal dissemination of these tumors, reflecting the extremely aggressive nature of these tumors . In our Bone involvement ,55 and eDifferential diagnosis. Often, the variable clinical presentation, but also some radiologic and histologic features, make ATRTs hard to discriminate from other brain tumors. When they are in the infratentorial compartment, they can be misdiagnosed as MB or anaplastic ependymomas, while when they are in the supratentorial compartment they may resemble some embryonal tumors, such as embryonal tumor with multilayered rosettes (ETMR) or high grade gliomas and anaplastic ependymomas ,61,62,63ATRT shares some features with the above-mentioned CNS tumors. The restricted diffusion of the solid component due to the high cellularity is a feature found also in MB, ETMR, and supratentorial high-grade gliomas; when ATRT has an infratentorial location, the low frequency of intratumoral calcifications and hemorrhage is also a common feature of MB ,65.The tendency to occur off-midline and the presence of intratumoral calcifications and hemorrhage are differential diagnostic criteria for anaplastic ependymomas; the high rates of cystic components, calcifications, and hemorrhage, together with a heterogeneously enhancing wall surrounding a central cystic region, represent features for differential diagnosis with other embryonal tumors .However, in pediatric ATRTs, the presence of a large tumor with eccentric cysts and growing near ventricle or cisternal spaces, combined with some other features such as a very young age and the tendency to disseminate at diagnosis, remain hallmarks  and helpIf the diagnosis of ATRT may be easily suspected in very young infants, in adults the differential diagnosis is more challenging and, often, the correct diagnosis is guided by the histopathological result. ATRT often mimics, in terms of clinical features and image findings, high-grade glioma, pineoblastoma, germinoma, pituitary macroadenoma, and other embryonal tumors such as embryonal tumor with multilayered rosettes . In factBecause the MRI findings of ATRT often overlap with other pediatric high grade brain tumors, and their clinical outcomes are different, the pathological confirmation of ATRT is mandatory.The disparity in cytogenetic data involving chromosome 22 and, rarely, the chromosomes 6 and 11 ,67,68, rGene sequencing and DNA methylation analyses are some of the most powerful tools currently available to assess biological features of the tumor and identify therapeutic targets.Studies demonstrated that mutations of SMARCB1 may be found in all domains of the protein, but many mutations affect the C-terminal region, and truncating C-terminal SMARCB1 mutations are associated with a relatively favorable outcome ,71,72. OOther studies based on DNA methylation profiles demonstrated that the three distinct molecular subgroups  differ in terms of age at diagnosis, tumor location, type of SMARCB1 alterations, and overall survival. In particular, ATRT-TYR, especially in newborns older than 12 months, have been associated with a slightly better prognosis compared with the other subgroups .In agreement with previous studies, our data demonstrated a shorter survival in patients with SMARCA4-mutated tumors than those with SMARCB1-mutated tumors, confirming the biologically more aggressive nature of SMARCA4-mutated tumors. Unfortunately, DNA-methylation profiling was performed in only a few of our patients, while gene sequencing was unavailable. Thus, we cannot provide a combined reading of histopathological data together with neuroimaging findings. Further studies based on gene sequencing and DNA-methylation profiling are warranted to address the relationship between histopathologic profiles and radiologic features.Currently, no specific guidelines have been established for the management of ATRTs, and a multimodal approach including gross surgical resection coupled with chemotherapy (ChT) and radiotherapy (RT) according to the child’s age and clinical status ,16,17,18To date, the prognosis for ATRTs remains poor, especially in patients younger than 3 years of age and in the presence of a residual tumor or metastasis ,77,78,79In our series, all but one of our pediatric patients received therapy after diagnosis; two children over 21 months of age who received high dose ChT and intrathecal ChT, associated or not with RT, had a longer survival or a complete remission of the disease. Additionally, the adult patient who received combined ChT and RT had complete remission of the disease. Although reluctance exists in using radiotherapy in young patients because of the risk of functional impairment of the developing brain ,83, our Our diagnostic paradigm, based on literature data, may be a useful and practical tool for the differential diagnosis of ATRTs, but the lack of statistical support in selecting some “distinctive” radiologic and clinical findings is a limitation and some possible bias may not be ruled out; future studies are warranted to validate this diagnostic process.The rarity of ATRTs occurring in the pediatric and adult population, along with their unusual cytology and lack of specific radiological features, make their diagnosis a challenge. However, especially in childhood, the very early age of onset, together with the predilection for the development near cistern spaces or ventriculi and the presence of eccentric cysts, should make the radiologist aware of the possibility of ATRT. On the other hand, in adult patients, the diagnosis remains a challenge and only the histopathological analysis allows us to make the correct diagnosis. A multidisciplinary approach involving radiologists, neurosurgeons, and pathologists through sharing clinical and pathological information may improve diagnostic accuracy, speeding up the diagnostic process and allowing prompt therapy.


Pancreatic neuroendocrine tumors (PNETs) account for a very small proportion of all pancreatic tumors. The presence or absence of a specific clinical manifestation associated with hormone oversecretion determines whether a PNET is functional or nonfunctional. Imaging expressions differ significantly, from the common to the extremely rare. Diffuse, uniform pancreatic enlargement, without abnormalities in contour or a central mass, is the most common radiological finding. We report the case of a 43-year-old male who presented with abdominal pain and early satiety over the course of two months and was found to have a non-functioning pancreatic neuroendocrine tumor, with the pseudocyst being the initial diagnostic finding. In comparison to patients with exocrine pancreatic cancer, those with PNET have a much better prognosis and longer expected survival time. This case report highlights the importance of the diagnostic evaluation of PNET and timely intervention to prolong the survival of the patient. Neuroendocrine tumors (NETs) are epithelial neoplasms characterized by a predominance of neuroendocrine differentiation . A pancrPNETs consist of both functional PNETs with clinical symptoms caused by hormones released by the tumors and nonfunctional PNETs with no distinguishable clinical manifestations ,2. Due tA 43-year-old Asian man presented to the outpatient department (OPD) with complaints of epigastric pain and early satiety for the last two months. The pain was sudden in onset, acute in nature, did not radiate to the sides, and could be temporarily alleviated by bending forward. It was not accompanied by nausea or vomiting. No history of weight loss or jaundice was present. The patient is a non-smoker and denied any alcohol intake. The patient is a construction worker and has a body mass index (BMI) of 19.5. He denied experiencing any appetite loss or any chronic illness in the past. His prior medical history was unremarkable.His vitals were stable: heart rate of 80 beats per minute, blood pressure of 120/80 mmHg, and body temperature of 98 °F. His physical examination was unremarkable except for mild epigastric tenderness on deep palpation. A series of laboratories were conducted  was performed, which revealed the following results: A region of mixed echogenicity measuring approximately 7.1 x 9.2 cm along the head of the pancreas and surrounded by fat stranding is most likely indicative of necrotizing focal pancreatitis. In response to the findings of USG, a high-resolution computed tomography (HRCT) of the abdomen was performed the following day, which revealed a large, well-oriented fluid density lesion measuring approximately 6x5x4 cm in the head of the pancreas, as well as calcification and a poorly defined mass surrounding the head of the pancreas  was conducted, revealing a large, solid, well-defined cystic mass with septations and vascularity measuring 2.5 x 3.3 cm in the head and the body of the pancreas. Another mass component in the head of the pancreas was hypoechoic, with calcified areas measuring 2 x 3 x 2.6 cm. The radiological evidence and clinical symptoms of the patient strongly suggested the presence of a localized pancreatic neuroendocrine tumor. Hence, for further grading and determining the course of treatment of the patient, a EUS-FNA for cytology, and a pancreatic head biopsy were performed for histopathology.Histopathology confirmed the presence of a neuroendocrine tumor (NET) in the pancreatic head, revealing a nesting neoplasm with round-to-oval nuclei, salt-and-pepper chromatin, scant cytoplasm, and inconspicuous nucleoli in the individual tumor cells Figure .No areas of necrosis were identified. Immunostaining revealed cytokeratin and synaptophysin positivity with a Ki-67 index between 2% and 20%. His CA-19.9 levels were 4.99 U/ml (0-37 U/ ml). A conclusive diagnosis of grade-2 PNET was made based on histopathology and immunostaining. Given the state of his localized, well-differentiated, non-functional, grade-2 PNET and the lack of signs of metastatic or lymph node involvement, the decision to perform pancreatic sparing resection  was made. The patient was operated on successfully without any intraoperative or postoperative complications. Postoperative surveillance was done every three months for more than a year and no evidence of recurrence was found.Rarely, the gastrointestinal sites, including the pancreas, liver, duodenum, and small intestine, can be affected by PNETs. In rare instances, it is impossible to pinpoint the genesis of a tumor . PancreaThe World Health Organization (WHO) classification method requires the evaluation of tumor localization, extension, proliferative potential, and angio/perineurial invasion. Well-differentiated endocrine tumors (WDET), endocrine carcinomas (WDEC), and poorly differentiated endocrine carcinomas (PDEC) are all categorized differently using this grading system . For neuMultiple investigations on the pathogenesis of PNETs have revealed that chromosomal aberrations may play a role in the cause of PNETs. In the most recent WHO classification 2017), PNETs are classified based on their proliferative activity as evaluated by mitotic count and the expression of nuclear antigen Ki-67, a marker of cellular proliferation , PNETs a. Non-funGenerally, the clinical presentation is determined by tumor mass effects. Therefore, conventional imaging methods often achieve localization . ExistinSurgical resection is often the cornerstone of curative treatment. Curative surgery is advised for sporadic NF-PNETs if local and hepatic resectability is possible and extrahepatic metastases are absent. While 2 cm tumors may be amenable to enucleation, bigger masses necessitate extensive oncological excision . PNETs dNon-functional PNETs are a rare kind of cancer. Unlike the functional types of PNETs, they do not produce hormonal products and hence they are difficult to diagnose. The ultrasound of the abdomen is the initial test of choice, which could be followed by investigations with higher sensitivity and specificity. Once diagnosed, resection of the tumor should be done and the patients should be followed up for recurrences.


Concomitant schwannomas and benign meningothelial proliferations, including meningothelial hyperplasia or meningioma, rarely occur at the same location outside the setting of neurofibromatosis. Herein, we present a rare case of concurrent schwannoma and benign meningothelial hyperplasia concomitantly occurring in the cervical spine of a 69-year-old male patient with no history of any genetic disorder. Schwannomas and meningiomas are the two most common spinal tumors, representing 30% and 25% of spinal cord tumors, respectively . In the Meningothelial hyperplasia is a poorly characterized entity that is thought to be reactive in nature and is often seen in association with advanced age, chronic kidney disease, trauma, hemorrhage, and neoplasia , 8. In tHerein, we present the case of concomitant schwannoma and a benign meningothelial hyperplasia arising in the cervical spine of a 69-year-old man.A 69-year-old male patient presents with a chief complaint of neck pain of several weeks, radiating to the head and right shoulder. The pain is reported to be intermittent, burning in quality, associated with weakness and numbness especially in the right hand. The patient has a past medical history of hypertension, hyperlipidemia, benign prostatic hyperplasia, DVT/pulmonary embolus in the past year for which he is on anticoagulant therapy, and a surgical history of bilateral knee replacement within the past two years. The patient has no history of neurofibromatosis or stigmata of another genetic disorder. Upon physical examination, the patient has right hemiparesis (-4/5) that has mildly progressed compared to prior examination. MRI of the cervical spine (performed at an outside institution) reveals a T1 hypointense and T2 heterogeneously hyperintense extramedullary mass causing impingement upon the right side of the spinal cord which is flattened and displayed to the left at the C2-C3 level. The mass measures approximately 35 mm in transverse diameter by 13 mm in AP diameter by 18 mm in craniocaudal diameter and laterally extends through the right C2-C3 neural foramen. The radiologic impression is that of a nerve sheath tumor of either benign or malignant nature (no images available). Surgery is recommended, and the patient undergoes a C2-C3 laminectomy at an outside institution with resection of the tumor. Intraoperatively, the tumor is seen on the right side of the canal with the cord. Dorsolaterally, the tumor appears to blend in with the dura at its base. The junction is coagulated with bipolar cautery. Then, some of the tumor is debulked along the base, allowing it to shrink away from the cord laterally. Working around the superior pole of the tumor then reveals rootlets that appear to be joining the tumor to the right superior pole along its posterior aspect. Attempting to dissect to release it reveals that the rootlets were not just adherent to the capsule but rather growing into the tumor. The rootlets are hence cauterized and amputated at base. The tumor is removed in piecemeal fashion, and the tissue is sent to pathology. Grossly, the specimen consists of multiple pieces of light tan, firm tissue measuring in aggregate (2.0 × 1.6 × 0.3 cm).The slides are sent to our institution for review. Microscopic examination reveals fragments of a benign nerve sheath tumor comprised of Schwannian cells arranged in loose fascicles set in an eosinophilic stroma with occasional hyalinized vessels and Verocay bodies, compatible with Schwannoma Figures . Also prThe overall histopathological and immunohistochemical findings are compatible with Schwannoma with a small focus of benign meningothelial proliferation compatible with benign meningothelial hyperplasia. MRI with and without contrast performed three months after the surgery shows postoperative changes of subtotal resection of the enhancing mass centered about the right C2-C3 foramen, with a residual 21 × 10 × 16 mm  right neural foraminal mass and significant improvement in the spinal cord compression. At six month postsurgery, MRI demonstrates improved postsurgical changes with redemonstration of the residual spinal enhancing mass at the right C2-C3 neural foramen extending into the spinal canal with minimal mass effect on the spinal cord on the right aspect of the cord at this level. No further available clinical data could be obtained due to the patient being lost to follow-up.While previous cases of simultaneous schwannoma and meningiomas arising at the same level of cervical spine have been reported, concomitant schwannoma and meningothelial hyperplasia have not been previously reported at the same location in any site. In the present case, a 69-year-old man presents with an intradural extramedullary mass at C2-C3. Pathology shows a schwannoma with a separate fragment of meningothelial proliferation, most compatible with meningothelial hyperplasia. The previously reported seven cases of concurrent schwannoma and meningioma occurring at the same spinal level consisted of a predominantly extradural component of the mass which was a schwannoma in addition to a smaller intradural extramedullary component which represented a meningioma –3, 5, 6,In contrast to the previously reported cases, in our case, only one mass was discernible macroscopically, thus favoring meningothelial hyperplasia over a concomitant meningioma. Among the eleven reported cases of meningothelial hyperplasia, 64% overlapped immunohistochemically with meningiomas in terms of progesterone receptor (PR) expression and two cases showed chromosomal gains, in contrast to normal arachnoidal cap cells that were negative for PR and showed no chromosomal abnormalities . FurtherWhen it comes to cases of concomitant schwannoma and meningioma of the cervical spine without associated syndromes, based on the available literature, clinical follow-up was reported on two cases with no tumor recurrence 24 and 6 months after surgery , 6. No fFor cervical schwannomas arising at the high cervical levels (C1-C3), microneurosurgical management using a standard midline posterior approach, which was suggested to be the most suitable type of approach for these tumors, in combination with proper neuroradiological observation and pathological appreciations can give satisfying neurological outcomes without extensive bone removal or soft tissue manipulation . CompletSpinal meningiomas are usually benign slow-growing tumors that respond favorably to surgical excision, especially complete resection, with low complication rates and a good long-term functional outcome , 14. A lCervical spine meningiomas constitute a very small proportion of spinal schwannomas. The largest case series consists of twenty-two cases of cervical spine meningiomas . The funPathogenetically, schwannomas are believed to arise from Schwann cells of the dorsal root nerves while meningiomas are thought to arise from the arachnoid membrane/cap cells , 6. TherRegarding the latter theory, reactive meningothelial hyperplasia caused by a preexisting tumor is a consideration in our case. In fact, Geddes et al. proposed it as a plausible mechanism for reactive meningothelial hyperplasia occurring in the vicinity of a schwannoma . Even thWe report the case of a concomitant schwannoma and meningothelial hyperplasia present within the high cervical spine of a 69-year-old man with no history of any genetic disorder. This is a rare phenomenon of uncertain biologic nature for which the underlying mechanism remains to be fully elucidated.


This report presents a 74‐year‐old man with haemoptysis, cough and pharyngeal discomfort. Bronchoscopy revealed a brown worm‐like moving foreign body attaching to the upper trachea approximately 2 cm below the glottis. This worm was identified as a leech, measured about 4 cm and was mobile. It was removed safely in one piece via cryotherapy by flexible bronchoscope. Intrabronchial cryotherapy by bronchoscope might be the best way of extraction of leeches. A 74‐year‐old man presented to our hospital with complaints of haemoptysis, cough and pharyngeal discomfort for 45 days. Bronchoscopy revealed a leech attaching to the upper trachea approximately 2 cm below the glottis. The leech was removed safely in one piece via cryotherapy by flexible bronchoscope under local anaesthesia. The tracheal leech infestation is a relatively rare cause of haemoptysis. Traditionally, leeches were removed by using forceps.Here, we reported a rare case of haemoptysis whose cause has proven an infestation of the trachea by a leech, which was removed safely in one piece via cryotherapy by flexible bronchoscope. A 74‐year‐old man presented to our hospital with complaints of haemoptysis, cough and pharyngeal discomfort for 45 days. He had no dyspnoea, fever, purulent sputum, dysphagia, epistaxis or melena. The patients came from rural area and had a history of drinking unpurified water from streams.On physical examination, there were no abnormal findings, and vital signs were normal. He had good general conditions. No cyanosis of lip. No subcutaneous haemorrhage. Both lungs were clear. Routine blood test, biochemical parameters, coagulation function, stool test and urine analysis were normal. Chest computed tomography revealed some soft tissue shadow in the upper trachea Figure .Bronchoscopy was performed following nasal packing under local anaesthesia and oxygen. After 1% lidocaine was sprayed into the larynx, glottis and upper trachea, flexible bronchoscope was inserted into the trachea. It revealed a brown worm‐like moving foreign body attaching to the upper trachea approximately 2 cm below the glottis Figure . The fleThe symptoms were improved obviously after removal of the leech. One week after discharge, by telephone follow‐up, the patient did not complain of discomfort.Leeches are blood‐sucking parasites that are generally found in puddles of water and streams. They have two suckers. The posterior sucker is mainly used for leverage, whereas the anterior one, which consists of the jaw and teeth, is where the feeding takes place. Leeches can reach the lower airway when water is ingested directly from infected lakes or rivers.The extraction of the leech attached to the respiratory tract is not always easy, not only because of its slippery body surface that can easily be ruptured but also due to its important link power. A case report described a 15‐year‐old female from Iran whose leech infestation was located in the right lower lobe anteromedial bronchus.Foreign bodies retrieval by cryoprobe is feasible for many organic and inorganic aspirated objects.In conclusion, the physician should be aware of the possibility of the tracheobronchial leeches if the patients have a history of drinking unpurified water in fields and have the following symptoms, such as haemoptysis, cough and throat discomfort. Intrabronchial cryotherapy by bronchoscope might be the best way of extraction of leeches.The authors have no conflicts of interest to declare.The study was conducted in accordance with the principles of the Declaration of Helsinki and Good Clinical Practice guidelines. The study was approved by the Ethics Committee of First hospital of Yunnan Province. Written informed consent was obtained from individual. Written informed consent has been obtained from the relative of the participant, who is approved the publication of the manuscript with anonymity.All authors contributed to the acquisition of data, writing and revision of this manuscript.


A malignant peripheral neural sheath tumor (MPNST) is a malignant soft tissue neoplasm with cellular origin arising from the outer lining of peripheral nerves. Approximately 10 cases have been identified to date where the lower urinary tract was affected. We discuss the case of a female patient that presented with primary MPNST that arose in the urethral tract in the absence of neurofibromatosis type 1 (NF1) or prior malignancies. This patient presented with pain and acute urinary tract symptoms secondary to urethral obstruction by a protruding vaginal mass. The patient underwent an incomplete initial resection to alleviate symptoms and to obtain a tissue diagnosis. Three months after the first hospitalization, the patient was re-hospitalized due to the recurrence of symptoms and subsequently underwent a complete tumor excision. The initial resection showed a 7.0 x 4.5 x 4.5 cm aggregate of tan-red to gray tumor masses. Microscopic examination showed a spindle cell neoplasm with malignant cytological features . Tumor cells stained positive for SOX10, S-100 (10% of tumor), with a “mosaic pattern” of H3K27ME3 (50% of tumor nuclei positive). Other lineage-specific and keratin markers stained negative.In the absence of other patient known primaries, the findings were consistent with a primary MPNST of the urinary tract. Residual tumor was identified on MRI scans one month after the follow-up. The completely excised tumor specimen on the second admission showed identical morphology when compared to the first specimen. While MPNSTs typically carry a poor prognosis, knowledge of behavior and prognosis of primary MPNSTs in the bladder is limited, due to the few relative numbers of available case reports. Further research is needed to study the clinical behavior, morphology, immunophenotypes, and genetics of primary MPNSTs arising from the lower urinary tract. Malignant peripheral neural sheath tumors (MPNST) are sarcomas that typically arise from the outer lining of peripheral nerves, and typically present as a mass adjacent to or near a peripheral nerve . ApproxiMPNST affecting the lower urinary tract is rare. To date, 10 cases have been described in the literature, all of which were male -17. A toWe report the case of a 58-year-old female, gravida 4, para 4, who presented to the emergency department for worsening pelvic discomfort with urinary obstruction in the last several days. She was seen by her primary care nurse practitioner three to four weeks ago for pelvic pain during which a pelvic exam showed a prune-sized mass. While the patient was awaiting a specialist referral, her pain worsened as the mass rapidly enlarged. In addition, the patient experienced new-onset minor spotting. She had no known personal or family history of NF1 or cancer. She denied tobacco, alcohol, or illicit drug use. Her age-appropriate cancer screenings were negative to date. Her surgical history was significant for a total abdominal hysterectomy for leiomyomas (fibroids) with mesh abdominal hernia repair.The inpatient gynecology-oncology team performed a physical exam that was significant for a protruding mass that arose from the vaginal tract with red discoloration, which was not initially identified on the triaging CT scan. The patient underwent subsequent exploratory laparotomy with partial resection of the mass. She was subsequently discharged without complications for outpatient follow-up.The patient had a scheduled MRI performed one month after the previous visit. She had not yet received radiation or chemotherapy. Three months after her first admission, the patient returned to the hospital for worsening pelvic pain. During the second admission, she underwent complete tumor excision by the gynecology-oncology team and was uneventfully discharged. Subsequent patient follow-up was not available for review.An abdominal/pelvic CT scan with contrast from the patient’s first admission was only significant for a small ventral abdominal hernia without incarceration; a mass was not visualized. The patient’s follow-up pelvic MRI, three weeks following discharge, showed a 30.1 mm hyperintense lobulated mass at the external urethral meatus, visualized on both T1 and T2 enhanced phases. No associated lymphadenopathy, bone lesions, or additional soft tissue lesions were seen. The MRI findings are shown in Figure The urethral tumor specimen from the patient’s first surgery was received in multiple, irregular fragments that measured 7.0 x 4.5 x 3.5 cm in aggregate, weighing 62 grams. The tumor was tan-red with focal areas of green-to-gray discoloration. The tumor also had gross areas of myxoid changes and friable cut surfaces, which were suggestive of necrosis.By morphology, the tumor showed a spindle cell, soft tissue neoplasm with high cellularity on low power. High-power examination showed malignant features that consisted of moderate to marked cytological atypia, nuclear pleomorphism, and scattered atypical mitoses . Approximately one-third of the sampled tumor showed coagulative-type necrosis and inflammation. No surrounding urinary bladder muscle or nerve tissue wall was identified microscopically.Immunohistochemistry showed a tumor that stained positive for S-100 (10% of cells with weak staining) and SOX10 (40% of cells with strong nuclear staining). The tumor was negative for pan-keratin, CD117, DOG1, CD31, desmin, HMB45, MART1, STAT6, SMA, and myogenin markers. Myosin and CAM5.2 both showed nonspecific patchy staining in less than 5% of the tumor, which was not contributory to the final diagnosis. H3K27me3 showed a partial loss in nuclear positivity that affected approximately 50% of the tumor cells. The tumor stained completely negative for p16. Based on tissue morphology, immunohistochemical staining patterns, and exclusion of other entities, a diagnosis of MPNST was made. Highlights of our microscopic findings are presented in Figure The peri-urethral tumor specimen from the patient’s complete tumor excision, three months later, was also received in fragments, aggregating to 7.0 x 6.0 x 4.0 cm and weighing 77 grams. The diagnosis of MPNST was made by morphological comparison with the initial surgical specimen, and was found to be identical.Diagnosing MPNST, especially when not associated with NF1, is challenging since there are no established sets of immunohistochemical markers or recurrent patterns of genetic abnormalities that are seen with other soft tissue neoplasms. In addition, the presence of high-grade or undifferentiated features further adds to the diagnostic challenge of differentiating MPNST by morphology. Thus, the diagnosis of MPNST is often based on clinical presentation, morphology, and immunohistochemical staining patterns that favor MPNST while excluding other entities. Our patient’s MPNST demonstrated a locally-aggressive clinical behavior, from the time of initial presentation to initial resection , and the time from interval imaging follow-up  to subsequent completion of excision/debulking (the tumor was up to 7 cm on gross examination).Microscopic differential diagnoses for MPNST include (but not limited to) atypical neurofibroma, cellular schwannoma, monophasic synovial sarcoma, liposarcoma with de-differentiation, spindle cell melanoma, leiomyosarcoma, and low-grade fibromyxoid sarcoma. In our patient’s differential diagnosis workup, the presence of high-grade morphology features  rendered any low-grade diagnoses highly unlikely. Given the volume of tumor submitted and the lack of a retroperitoneal mass, the absence of lipoblasts made a de-differentiated liposarcoma highly unlikely. The morphology and immunohistochemical patterns did not support a schwannoma. Negative lineage-specific markers rendered the diagnosis of leiomyosarcoma (desmin and SMA negative) and synovial sarcoma (pan-keratin and EMA negative) highly unlikely. The weak S-100 and partial SOX10 expression in our case rendered a spindle cell melanoma an unlikely possibility .In the 10 cases of lower urinary tract primary MPNST, complete or patchy S100 positivity was most consistently noted. While either S-100 and SOX10 can often be positive or partially positive in MPNST, these markers are often not specific and can be seen in other tumors with neural crest origins. Table The partial loss of H3K27me3 staining and a negative p16 staining, that was seen in our case, supported our diagnosis of MPNST. Although the genetic basis of MPNST is complex and not attributed to single or recurrent genetic abnormalities, mutations in the PTEN and PIK3CA have been described . While aSimilar to the clinical management of other soft tissue sarcomas, the clinical management of MPNST is dependent on the clinical stage, organs involved, and interdisciplinary approaches to care . MPNSTs To the best of our knowledge, this was the first case in the literature of a primary urethral MPNST in a female without NF1 or previous radiation treatment. The addition of our case to the current literature brought the male-to-female ratio to 10:1. However, the male gender predilection for urinary tract MPNST that we observed may not be statistically significant, given the low number of cases analyzed to date. It has been suggested that gender-specific sex hormones may contribute toward the growth of Schwann cells, which were thought to give rise to precursor lesions that transform into MPNSTs. Additional case reporting with larger study series may reveal any gender dominance or molecular abnormalities specifically related to primary MPNSTs arising from the urinary tract, which may guide targeted and specific therapeutic options.


Angiomatoid fibrous histiocytoma is an uncommon soft tissue neoplasm with potential for recurrence and rare metastasis. The majority of cases are painless, slow growing and occur in superficial extremities of young adults. Here we report a case of Angiomatoid fibrous histiocytoma in a 28-year-old male patient presenting as a slowly growing painful mass in the groin region. This case is of particular interest due to its uncommon site of presentation and its misdiagnosis as lymph nodal lesion on radiology. Although it is a rare entity, it should be considered in differential diagnosis of soft tissue mass in a young patient. The swelling was associated with pain and discomfort.There were no other constitutional symptoms. The patient was previously operated on at another centre for swelling at the same site. The lesion then recurred after three years. It was diagnosed as a benign lesion, however, the previous biopsy report was unavailable.Contrast Enhanced Computed Tomography (CECT) of pelvis was done which showed a well-defined, lobulated partially cystic mass with enhancing solid component in the subcutaneous plane of left groin region lying lateral to the common femoral vessel and was given a provisional diagnosis of partially necrotic lymph nodal lesion. An excision biopsy at our centre revealed a skin-covered mass measuring 4.4x4x2.2cm .The mass was partially encapsulated with a cut section showing solid cystic areas with extensive haemorrhage. Multiple lymph nodes were identified, measuring 2.5x1.5x1cm. However, the skin surface was normal. Histopathological examination demonstrated an incompletely pseudo-encapsulated tumour in the deep dermis and subcutis comprising nodules of spindle-shaped cells arranged in sheets, bundles, whorls, and focally in storiform pattern .Large irregular pseudoangiomatous spaces were seen with extensive hemosiderin deposition. The focal area demonstrated pleomorphic cells with occasional mitotic figures. Lymphoid aggregates with germinal centre formation were frequently noted in the periphery of the tumour. The lymph nodes showed reactive features. The resected margins were negative. Based on the histomorphology, the preliminary diagnosis of angiomatoid fibrous histiocytoma was made and immunohistochemical evaluation was performed to further ensure the diagnosis and to rule out other tumours like a vascular tumour, melanoma, and other sarcomas. The results showed positive stains for vimentin, CD68, TLE1, CD99, and desmin . Prolife1 It frequently presents in extremities as painless superficial mass followed by trunk and head and neck region.7 However, a history of pain was encountered in our patient. It has a predilection for the sites of normal lymphoid tissue such as axillary, inguinal, and supraclavicular regions.3 Occasionally, it can occur in extra somatic sites like the brain, lungs, retroperitoneum, bone, and breast.9 Most AFH presents during the first two decades of life although it can have wide age distribution.6 History of trauma has been elicited in a few cases.7 A handful of cases have experienced systemic symptoms like pyrexia, anaemia, and malaise attributed to intratumoral cytokine production.2 Its association with some paraneoplastic syndrome-like platelet storage pool deficiency has been mentioned in literature.8AFH is a rarely metastasizing intermediate grade mesenchymal neoplasm with an uncertain line of differentiation.7 Radiological evaluation suggested a partially necrotic lymph node in our case. Even though it is a rare neoplasm, it is very imperative to consider it in the differential diagnosis of soft tissue mass in young patients as the prognosis is excellent.It is very challenging to make an initial diagnosis of AFH due to its non-specific clinical and radiological findings. The possible differential diagnoses include diverse entities ranging from reactive to malignant tumours such as hematoma, hemangiomas, soft tissue sarcomas, and metastatic lymph nodes.4 Hence, devoting attention to these features are essential for the diagnosis. Additionally, there were some strikingly pleomorphic cells with mitotic figures in our case. But studies have exhibited that neither pleomorphism nor mitosis is correlated with clinical behavior.5Consistent with the classic histomorphological picture of AFH reported in the literature, our case had all four features: a) multinodular growth of spindle to histiocytoid cells, b) blood-filled pseudoangiomatous spaces surrounded by tumour cells, c) incomplete fibrous pseudocapsule, d) peripheral lymphoplasmacytic infiltrate with the formation of the germinal center.10 The differential diagnosis considered with these heterogeneous patterns include schwannoma, aneurysmal fibrous histiocytoma, rhabdomyosarcoma, malignant extrarenal rhabdoid sarcoma, Ewing's sarcoma, myxoid fibrosarcoma, myoepitheliomas.5Furthermore, it can demonstrate a wide spectrum of morphological variations such as clear cell change, sclerosis, nuclear grooving, schwannoma-like pattern with nuclear palisading, rhabdomyoblast-like cells, small round cells with scant cytoplasm, pulmonary edema like pattern, reticular pattern, myxoid areas posing diagnostic dilemmas.11 Bruehl FK, et al. has reported in their study that an unusual combination of desmin and EMA can raise a high index of suspicion for AFH in an appropriate histomorphological background as it is also seen in a distinct entity of desmoplastic small round cell tumor.8 Likewise, CD99 expression has been documented in some studies which are again similar to our results.2 There is occasional expression of myeloid markers like SMA, calponin, h-caldesmon nevertheless, skeletal muscle markers are negative.6 Recently AFH has shown high expression of ALK.8 AFH is also indicated by negative expression of endothelial markers such as CD34, CD 31, STAT4 and other markers like CK, CD35, S100.4AFH lacks a specific immunophenotype and has a supportive role only. Bohman SL, et al. reported that these tumours demonstrated immunoreactivity with desmin (56%) and CD68 (65%) which is consistent with our findings.7 EWSR-CREB1 is the frequently described aberration which is documented in more than 90% cases but is not specific as it is also seen in other tumours like clear cell sarcoma, clear cell sarcoma like tumours of the gastrointestinal tract, hyalinizing clear cell carcinomas and primary pulmonary myxoid sarcomas.10AFH is now recognized as a translocation associated neoplasm and is associated with three translocations EWSR-CREB1, EWSR-ATF1, and FUS-ATF1.4 As reported by Costa MJ, et al, its occurrence in extra somatic sites has shown to exhibit more recurrence rate and tend to be of larger size with high mean age compared to the somatic ones.12 There are no clinical, genetic, histomorphological or immunohistochemical parameters that can predict the behaviour of the tumor.5 The cumulative findings in a meta-analytical study have solicited that the metastatic rate is 8.7% although there are studies demonstrating metastasis in <1% which is predominantly in the regional lymph nodes.2Studies have demonstrated the variability in the rate of local recurrence from 2-25% and is commonly observed in cases with infiltrative margins.AFH is an intermediate-grade neoplasm that occurs commonly in the extremities of young adults. Since it is a rare tumour it can lead to erroneous diagnosis as there are no distinct clinical and radiological findings. The correct diagnosis of this entity is crucial as the vast majority of cases bear an excellent prognosis with a small risk of local recurrence and rare metastasis. Hence, wide excision with long-term clinical and radiological surveillance of the patient is highly warranted.


Lesions of the sellar region are a heterogeneous group of diseases with complex clinical manifestations. The common lesions of the sellar region include pituitary adenomas (PAs), craniopharyngiomas (CPs), Rathke’s Cleft Cysts (RCCs), germ cell tumors, etc. –3. Rare Liu et al. reported a case of an IgG4-related inflammatory pseudotumor involving the clivus mimicking meningioma. A male presented with intermittent headache for 2 years, and sudden dysphagia and hoarseness for 1 week. The magnetic resonance imaging (MRI) revealed an enhanced lesion located at the middle of the upper clivus region, which was preoperatively diagnosed with meningioma. The lesion was partially resected by endoscopic transsphenoidal surgery (TSS), and was pathologically diagnosed as IgG4-related inflammatory pseudotumor. Glucocorticoid was used postoperatively, and the patient’s symptoms including dysphagia and dysphonia were improved. Therefore, although the IgG4-related inflammatory pseudotumor is a rare lesion of the sellar region, it should also be considered a preoperative differential diagnosis. (ii) Primary pituitary lymphoma (PPL) is an extremely rare lesion of the sellar region with poor prognosis. Zhang et al. presented two cases of PPL and guided treatment and predicted prognosis using genetic analysis. The TP53 mutation and BCL6-LPP fusion were identified in one case of PPL by genetic analysis of cerebrospinal fluid and tumor tissue, and may be used as a marker for prognosis of PPL. Genetic analysis thus should be considered as a novel approach for prognosis prediction and treatment for PPL. (iii) Pituitary metastasis is an unusual and very rare disease, which accounts for approximately 1% of all intracranial metastases. It is difficult to diagnose the asymptomatic pituitary metastasis especially for patients with unknown primary malignant origin. Liu et al. reported a case of a male patient with visual changes and diabetes insipidus, and PA was initially diagnosed according to the MRI results with an extensive mass in the sellar region. The lesion of sellar region was completely resected though TSS, and the pathological results suggested the resected tumor tissue was pituitary metastasis from lung neuroendocrine tumor. Chest CT scan confirmed a pulmonary mass consistent with the primary neoplasm. Preoperative differentiation of pituitary metastases from PAs is very challenging because their clinical and radiological features are very similar. This case highlights the importance of a preoperative differential diagnosis of invasive lesions of the sellar region. (iv) Mature Cystic Teratoma (MCT) is a subset of intracranial germ cell tumors, and rarely occurs in the suprasellar region. Jiang et al. presented a unique and rare case of suprasellar MCT mimicking RCC. A young female patient complained of intermittent headache and oligomenorrhea for 11 years, and MRI demonstrated an irregular suprasellar lesion with slight intrasellar extension without obvious gadolinium enhancement. Endoscopic TSS was performed to remove the suprasellar lesion. According to the clinical, radiological, and operative findings, RCC was initially considered. However, the postoperative pathological findings revealed a mature cystic teratoma. Because the suprasellar MCTs are extremely rare, and their clinical and imaging features usually lacks specificity, it difficult to distinguish MCT from other cystic lesions located in the suprasellar region, and the precise diagnosis of MCT often relies on histological diagnosis. This case highlights the importance of obtaining a histological diagnosis to differentiate MCT from other lesions. (v) Rhabdomyosarcoma (RMS) is a malignant skeletal muscle sarcoma that rarely occurs intracranially, especially within the sellar region. Lu and Chen reported a pituitary RMS arising from a pituitary macroadenoma and its molecular profiling. They described an elderly man with an incidental discovery of a pituitary macroadenoma by MRI and underwent radiotherapy. Three years after radiation treatment, the tumor size increased significantly and caused mass effect on the optic chiasm. Transnasal endoscopic resection of the pituitary mass was performed, and a pituitary adenoma along with a separate spindle-cell sarcomatous component was identified by histological studies. Molecular profiling of the tumor using NextGen Sequencing identified mutations in TP53, ATRX, LZTR1, and NF1. This is the first case to report molecular features of a pituitary RMS arising from PA, which will help better understand its pathogenesis and to provide precise treatment plans. (vi) Extraventricular neurocytoma (EVN) located in the sellar/suprasellar region is an extremely rare tumor, and its biological behavior is unclear. Zhang et al. retrospectively analyzed the clinicopathological and molecular features of 4 cases of EVN arising from the sellar/suprasellar region, and demonstrated that EVNs arising from the sellar/suprasellar region had similar morphological features and immunophenotypes to classic central neurocytoma. However, there was no amplification of MYCN or EGFR, or no alterations in IDH1, IDH2, BRAF V600E, 1p/19q, H3F3A or CDKN2A were found in these tumors by molecular genetic testing. (vii) Granular cell tumors (GCT) of the pituitary are extremely rare lesion of the sellar region that arise from the posterior pituitary gland. Hong et al. reported a case of GCT of the pituitary and its genomic analysis results. An elderly female underwent resection of an incidentally diagnosed pituitary mass causing radiographic compression of the optic nerves. Histopathological findings of the resected tumor demonstrated a granular cell tumor of the posterior pituitary gland. The genomic analysis revealed mutations in key oncogenes such as SETD2 and PAX8, which have been reported in other cancers. This is the first report on comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. These data revealed feasible molecular pathogenesis of GCT and provided potential targeted therapies. (viii) Sellar glomus tumors are extremely rare lesions, which may be easily misdiagnosed as PAs. Cheng et al. reported a case of sellar glomus tumor which was misdiagnosed as NFPA. An elderly man presented with sellar mass for over 5 years and visual deficits for about 3 months. MRI revealed a lesion with cystic structures in the sellar region that was heterogeneously enhancing, and macroadenoma was initially diagnosed.  The sellar mass was resected via the TSS, and histopathological examination indicated a glomus tumor. This case suggests that glomus tumor should be considered as a differential diagnosis for sellar mass, and digital subtraction angiography examination is recommended before surgery. (ix) Although surgery is the first choice of treatment of CPs, it is associated with high long-term morbidity especially for CPs with hypothalamic involvement. Calvanese et al. reported that the BRAF/MEK inhibitor remarkably reduced tumor volume in two cases of papillary CP with confirmation of BRAFV600E mutation by biopsy. Therefore, BRAF/MEK inhibitor therapy may be a very useful and promising alternative treatment for giant and invasive CPs harboring the BRAFV600E mutation.In the present Research Topic in Frontiers in Endocrinology, we collected 22 studies and case reports on rare lesions of the sellar region. This Research Topic consists of two parts, the first part included nine articles of case reports that described various rare lesions of the sellar region. (i) IgG4-related inflammatory pseudotumors are one of the rare lesions of the sellar region, which are often misdiagnosed as other diseases. Zhai et al. reviewed seven MAS patients with GH excess and PP and found that all patients have craniofacial fibrous dysplasia-induced optic and otologic complications, increased growth velocity and advanced skeletal age. Early control of GH excess and PP leads to a reduced growth velocity and stabilized bone age. (ii) Cushing’s disease (CD) and ectopic ACTH syndrome (EAS) are two main causes of ACTH-dependent Cushing’s syndrome (CS). How to differentiate CD from EAS remain challenging. Currently, the high-dose dexamethasone suppression test (HDDST) was used to differentiate CD and EAS, low-dose dexamethasone suppression test (LDDST) was used to determine the diagnosis of CS. To develop an optimized pathway for the differential diagnosis of CD and EAS based on LDDST, Chen et al. performed a retrospective study of 261 CD and 29 EAS patients who underwent consecutive low- and high-dose DST. They found that LDDST with specific cut-off and HDDST had similar value to in differentiating CD from EAS, and combined LDDST and BIPSS could accurately differentiate CD from EAS. (iii) Basal ganglia germ cell tumors (BGGCTs) with or without sellar involvement is a group of very rare diseases. Zhang et al. evaluated the independent prognostic risk factors of patients with BGGCTs using multivariate analysis, and demonstrated that delayed diagnosis, focal radiotherapy, and non-pure germinoma were the independent poor prognostic risk factors of patients with BGGCTs. (iv) Adolescent thyrotropin-secreting adenoma (TSH-oma) in is a very rare kind of functional PA. Yang et al. summarized the clinical and therapeutic characteristics of 20 adolescent patients with TSH-oma, and found that these patients had larger tumors, higher TSH and thyroid hormone levels, and worse treatment outcomes than adult patients. (v) Large or giant PAs are relative rare tumors of the sellar region and remain therapeutically challenging.  Chen et al. explored the risk factors of recurrence or progression and predictors of prognosis of giant and large PAs after TSS, and indicated that partial resection, smoking, BMI ≧25 kg/m2, Ki-67 ≥3%, and Knosp classification grade 4 increase the risk of the recurrence or progression of large and giant PAs. (vi) RCCs is benign and cystic disease of the sellar region, which often cause pituitary dysfunction. The relationship between clinical characteristics of RCCs and pituitary gland function is not very clear. Zhang et al. retrospectively analyzed 221 patients with RCC, and found that although pituitary function was not related closely to size of RCC, endocrine functions need to be evaluated for patient with RCC. (vii) Clival chordoma is a locally aggressive tumor of the sellar region. Chen et al. retrospectively analyzed the clinicopathological features and surgical outcomes of 17 consecutive patients with clival chordoma, and showed that endoscopic transsphenoidal surgery (ETS) is a safe and reliable approach for clival chordoma with high resection rates and low morbidity rates. (viii) Intracranial aneurysms (IAs) located at sellar region account for 10% to 20% among all the IAs and the co-existence of IAs and sellar region lesions is very rare and easily overlooked. Yan et al. retrospectively reviewed 515 continuous patients diagnosed with sellar region lesions and found the overall prevalence of sellar region lesions co-existed with the IAs is 11.1%. The patients with sellar region lesions and IAs exhibit higher comorbidity rate of endoscopic endonasal approach (EEA). Moreover, they suggested computed tomography angiography (CTA) as a routine preoperative examination for patients with sellar region lesions before EEA to guarantee surgical safety. (ix) Repeat surgery for recurrent or residual PAs (rrPAs) is technically challenging. To evaluate the safety and outcomes of ETS in rrPAs, Gong et al. reviewed clinical and radiological characteristics of 73 patients with rrPAs and investigated the factors influencing gross total resection (GTR) and intraoperative cerebrospinal fluid (CSF) leakage using logistic regression analyses. This study demonstrated that Knosp grade is an independent predictor of GTR in repeat ETS, and previous transcranial surgery and non-functional PAs are significantly associated with intraoperative CSF leakage. (x) Gangliocytomas/mixed gangliocytoma-adenomas (GCs/MGAs) are extremely rare lesions in the sellar region. Zheng et al. retrospectively studied the histological features of 4 patients with mixed gangliocytoma PAs and found that MGAs are associated with endocrinopathies such as acromegaly. Furthermore, they indicated that PIT1-positive PAs may have neural differentiation potential, which suggests that the neuronal transdifferentiation of adenomatous cells maybe a possible mechanism for MGA pathogenesis. (xi) It is difficult to resect completely PAs in Knosp grade 4, which are generally associated with poor prognosis. Guan et al. retrospectively reviewed the surgical outcome of transcranial approaches in the large-to-giant pPAs in Knosp grade 4 and found that 26.2% of them achieve gross total resection. Moreover, frontotemporal approach is more appropriate for tumors with large size and extending into the lateral skull base. In contrast, the frontotemporal approach was associated with longer surgical time and more bleeding volume. (xii) Chen et al. also retrospectively analyzed surgical outcomes of TSS in 239 patients with giant PAs in a single-center cohort and indicated that maximum diameter and Knosp grade of giant PAs have a significant impact on the extent of tumor resection. In addition, they found that the incidence of CSF leaks in neuroendoscopy group is significantly higher than that in the microscopic group. (xiii) Postoperative central nervous system infection (PCNSI) is an uncommon but serious complication of patient with sellar region tumors who underwent surgical interventions. Wen et al. identified risk factors for PCNSI via univariate and multivariate analyses, and indicated that transcranial surgery, intraoperative CSF leakage, postoperative diabetes insipidus and adrenal insufficiency are risk factors for PCNSIsThe second part included thirteen clinical studies that addressed the clinical characteristics and treatment outcome of lesions of the sellar region. (i) MAS is a disorder characterized by fibrous dysplasia, hyperfunctioning endocrinopathies and café-au-lait-spot. The coexistence of precocious puberty (PP) and growth hormone (GH) excess in patients with MAS is extremely rare. In summary, lesions of the sellar region are very complex, and a subset of them lack specific clinical and imaging features. Therefore, it is challenging to accurately diagnose these diseases before surgery, especially int the case of rare lesions. This Research Topic included a group of rare lesions of the sellar region that are easily misdiagnosed as other diseases. In addition, studies of surgical outcomes, risk factor analysis and molecular genetic testing for some sellar lesions were also included. Moreover, new therapeutic concepts and strategies such as personalized and targeted therapy also were reported. Through this Research Topic, we aimed at attaining a better understanding of rare lesions of the sellar region, and to provide new tools to diagnose and treat these diseases more accurately. We expect future issues will collect more studies on basic and translational research on lesions of the sellar region, bringing a better understanding of their characteristics and pathogenetic mechanisms to improve the clinical outcomes for these patients.CD and RY draft this manuscript. HW and JPC polished and revised the text. All authors contributed to the article and approved the submitted version.Financial support for this study was provided by the Beijing Municipal Administration of Hospitals Incubating Program (grant number: PX2022004). The funding institutions had no role in the design of the study, data collection and analysis, decision to publish, or preparation of the manuscript.The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.


Primary Effusion Lymphoma is an extremely rare and aggressive subtype of B-cell lymphoma, accounting for only <1% of all cases of this neoplasm. It has a unique clinical presentation because it has a predilection for appearing in body cavities, such as the pleural space, pericardium and peritoneum. It mainly affects immunocompromised individuals and may also affect individuals in the Mediterranean region and in areas endemic for human herpesvirus 8 (HHV-8). Herein, we report the case of an 83-year-old immunocompetent male complaining of coughing, fever and progressive dyspnea for 3 days. His past medical history revealed a recurrent pleural effusion for the last three years, as well as losing weight and malaise. A subsequent investigation revealed a PEL diagnosis of the pleura.


Traumatic cervical epidural hematoma is a rare disease in the pediatric population. It requires a high level of suspicion in children who presents with acute neurological deficit after trauma. Magnetic resonance imaging (MRI) is required to confirm the diagnosis. Early surgical intervention is recommended to have the best neurological outcome. We report a case of a traumatic cervical epidural hematoma in a toddler with complete paraplegia, which partially recovered after decompressive surgery. We would like to emphasize the importance of high suspicion for this condition and the need for an urgent MRI to confirm the diagnosis. Jackson first described spinal epidural hematoma (SEH) in 1869, which accounts for less than 1% of all space-occupying lesions of the spinal canal . This paA 22-month-old toddler with no known medical illness presented to us with a history of a fall five days prior to her presentation to our center. Her developmental milestones were up to age prior to the trauma. The child fell on the ground with a hyperextended neck from about 1-m height. She did not sustain any loss of consciousness and was still able to run and play as usual immediately post-fall. One day after the trauma, she started to gradually lose her motor power and was unable to move her upper and lower extremities. She also started to have bowel and urinary incontinence.During the initial presentation to the emergency department, her head and neck control was normal. She had hypotonia over all four limbs. Her upper and lower limb reflexes were absent. There was only flickering of muscle over bilateral upper and lower limbs. Computed tomography (CT) scans of the brain and neck were performed and showed no intracranial bleed; however, mild anterior displacement of C2 over C3 was revealed as shown in Figure C5 cervical decompressive surgery was planned immediately. The patient was positioned on a spinal Jackson table with a Mayfield clamp attached as shown in Figure The child showed significant neurological improvement postoperatively evidenced by the return of her left upper and lower limb motor power. However, she had residual weakness over her right upper and lower limbs. Other residual neurological deficits were neurogenic bladder and bilateral diaphragmatic paralysis.Upon her two-year follow-up after the surgery, she was able to stand, walk, and run unsupported. The motor power of her left upper and lower limbs was normal. Over her right side, she was able to extend her wrist with a strong grip power demonstrated by her ability to hold toys with her right hand. Her locomotor and self-care were a bit delayed. However, her cognitive, visual, hearing, and language developments were normal. Her clinical pictures during her follow-up are shown in Figure Spinal epidural hematoma (SEH) in pediatrics is a rare condition that can be either spontaneous or traumatic -4. SEH rA spontaneous epidural hematoma can be due to hematologic problems such as coagulopathies, liver diseases, infections, hematologic cancers, and anticoagulants. In cases of high-impact trauma, the development of SEH is related to the rotatory/whiplash mechanism of injury at the lower cervical region .Children will usually present with nonspecific symptoms, which makes it difficult to diagnose . PatientPhysicians should have a high level of suspicion of spinal pathology, and the gold standard for the diagnosis of SEH is to perform an MRI . The MRIIt was reported that the average days prior to surgery was 7.1 days (ranging from two to 14 days). Like in our case, the patient presented on day 5 as it was in the range of the other cases that have been reported, and she was operated on the same day. A few papers published advocate rapid surgical evacuation as the treatment of choice for patients with spinal epidural hematoma who present with symptoms ,5. PatieTraumatic cervical injuries with spinal epidural hematoma are relatively rare among the pediatric population. Patients usually present with nonspecific symptoms, and it should be high on the list of suspicion. MRI is the gold standard for diagnosing spinal epidural hematoma. Early diagnosis and surgical treatment have the most favorable outcome with regard to neurological improvement.


A four-month-old girl presented with recurrent low gastrointestinal hemorrhage. Abdominal ultrasound showed diffuse parietal thickening and hyperemia of the colon. Computed tomography (CT) demonstrated diffuse thickening of the colon but also intense arterial globular mural enhancement with diffuse filling in the portal phase. Colonoscopy revealed multiple pseudopolipoid lesions along the colon which were histologically diagnosed as hemangiomas. The infant was diagnosed with gastrointestinal hemangiomatosis and was treated with propranolol resulting in complete resolution of symptoms.Although rare, the possibility of intestinal hemangiomatosis should be considered in the setting of rectal bleeding in an infant. Intestinal hemangiomatosis affects primarily infants or children and consists of multiple or large intestinal hemangiomas. The most common clinical presentation is gastrointestinal bleeding 2.A four-month-old girl was referred to our institution for recurrent low gastrointestinal hemorrhage (first episode at the seventh day of life). Physical examination and laboratory data were unremarkable.Colonoscopy revealed multiple pseudopolipoid lesions with mucosal edema along the colon, sparing the sigmoid and rectum. Barium enema , abdominThe infant was diagnosed with gastrointestinal hemangiomatosis and was treated with propranolol for one year. Repeat CT showed regression of the findings , confirmThe authors describe this case due to its rarity and successful treatment with pharmacotherapy alone. Infantile hemangiomas are the most common vascular tumours in infancy  and are 313In the past, the diagnosis required exploratory surgery or arteriography . NowadayPropranolol has been described as an effective treatment for infantile hemangiomas, and our patient showed a significant response to propranolol treatment alone , which c9


MDM2 and CDK4. These alterations are molecular hallmarks of well-differentiated liposarcomas and corroborate the histological diagnosis. Clinical and molecular features of the presented case are in line with the majority of previously published experiences. In conclusion, the presence of a liposarcoma should be taken into account during the diagnostic workup of scrotal masses, in order to minimize the rate of misdiagnosis and improper management. Molecular analysis may support histological characterization of these rare entities and potentially disclose novel therapeutic targets.Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enlarging mass underwent surgical resection, and a diagnosis of well-differentiated liposarcoma (lipoma-like subtype) was made. Post-operative treatments were not indicated, and the patient remains relapse free. Next generation sequencing performed on the neoplastic tissue showed co-amplification of  Murine Double Minute 2 (MDM2), Cyclin Dependent Kinase 4 (CDK4) and High-Mobility Group AT-Hook 2 (HMGA2) [MDM2 and CDK4 are frequently co-amplified in WDL/DDL, as well as more than 75% of LS present HMGA2 amplification [HMG2A rearrangements are sometimes encountered in mesenchymal tumors, including lipomas [Liposarcomas (LS) represent 20% of all soft tissue sarcomas (STS) . There a (HMGA2) . In part lipomas .Next generation sequencing (NGS) identifies these genetic hallmarks often contributing to the correct diagnosis ,8.The retroperitoneum and limbs represent the most frequent LS presentation sites , while sHere we present the case of a giant paratesticular LS for which we performed NGS analysis. We also provide a brief literature review on the clinical, pathological and molecular features of this entity and its current therapeutic indications, as well as future perspectives.In October 2017, a healthy 76-year-old man presented with a painless right scrotal mass that had been slowly growing over a period of two years. On physical examination, the lesion displayed parenchymatous-soft consistency and could be distinguished from the right testicle. Serum beta-human chorionic gonadotropin (b-HCG), lactate dehydrogenase (LDH) and alpha-fetoprotein (AFP) were within the normal range. Ultrasonography (US) showed an extra-testicular mass of about 5 cm which was considered a scrotal hernia. Therefore, hernioplasty was proposed to the patient, but he refused surgery. In December 2019, as his inguinal discomfort worsened, the patient underwent another US, which revealed a significant growth of the scrotal mass, now measuring 10 cm, and excluded the presence of a hernial orifice. According to these findings, he was diagnosed with a giant primary scrotal lipoma and underwent surgical resection of the mass. Due to the size of the tumor and its adherence to surrounding tissues, an en bloc excision was not feasible and the lesion was removed in nine fragments .Macroscopically, the tumor appeared as a solid mass of adipose tissue with heterogeneous consistency and a yellowish lipoma-like cut surface. Histopathologic examination revealed a lesion composed of mature fat with variably sized adipocytes separated into lobules by bland fibrous septa. Cellularity was low and mitotic figures were uncommon. Atypical spindle cells in fibrous/fibromyxoid stroma, or adjacent to vessels were seen. Rare lipoblasts were found. No heterologous differentiation was identified. Immunohistochemically, neoplastic cells showed positivity for MDM2 and CDK4 .Based on morphological and immunohistochemical features, a diagnosis of well differentiated liposarcoma, lipoma-like subtype was made. Given this diagnosis, a contrast-enhanced computed tomography (CT) of the thorax, abdomen and pelvis was performed to exclude the presence of distant metastases. The patient then underwent rescue orchiectomy with high ligation of the spermatic cord and a wide excision. Adjuvant radiation therapy or chemotherapy were considered unnecessary. After a 30-month follow-up he is in good condition with no evidence of disease recurrence. Considering the rarity of the case, we decided to investigate the molecular profile of the tumor. Hence, we extracted both DNA and RNA from the formalin-fixed paraffin-embedded (FFPE) tumor tissue and sequenced them employing two NGS panels: (1) a DNA custom panel identifying point mutations, deletions/insertions or copy number variations (CNV) in 34 genes associated with STSs; and (2) the FusionPlex Expanded Sarcoma Panel (ArcherDx), which uses RNA as input material to look for key fusions and variants in 63 genes relevant for sarcomagenesis. Libraries were sequenced on the Ion GeneStudioTM S5 Plus sequencer and analyzed with the Ion ReporterTM software, version 5.18 (Thermo Fisher Scientific) and with the Archer Analysis software, version 6.2 (ArcherDx).MDM2 and CDK4 on chromosome 12q14-15, with a copy number variation of 10.1×. We also retrieved two gene fusions involving HMGA2: (1) the HMGA2-UNC5D fusion, involving exon 3 on HMGA2 and exon 5 on UNC5D, was retrieved in 52% of the sequences; (2) the HMGA2-LOC102724030 fusion, involving exon 3 on HMGA2 and exon 2 on LOC102724030, was found in the 18% of the sequences. As expected, we found no FUS-DDIT3 rearrangements, PIK3CA mutations or deletions of 13q which would have suggested an MRCL or a PLS, respectively [Sequencing analysis identified molecular alterations specific for WDL, thus confirming the histological diagnosis. Indeed, we found the co-amplification of ectively .We report here the case of a man diagnosed with a giant paratesticular LS, with typical WDL molecular alterations.Scrotal LS are frequently misdiagnosed. Physical examination and US are unable to discriminate these entities from lipomas, especially in the case of small or well-differentiated tumors with homogeneous fatty patterns and slow growth rates that can be misinterpreted as benign features ,21,22,23MDM2 and CDK4) are strongly suggested for diagnosis confirmation [Furthermore, it may be challenging to histologically distinguish a well-differentiated liposarcoma, lipoma-like, from lipoma. Typically, lipoma is superficial and lacks atypical nuclei. Hence, in deep-seated lesions , recurrent neoplasms, older patients with deep extremity lesions (>10 cm) and in cases with bland nuclei or ambiguous interpretation of atypia, hybridization techniques  and in other types of mesenchymal tumors [In the case of relapsed/advanced disease, chemotherapy and radiotherapy exert a different role according to the histological variant  ,30. Doxol tumors ,33.CDK4 amplification may represent a therapeutic target in WDL/DDL. To date, several trials evaluated the efficacy of CDK4/6Is as single agents or in combination with other agents [Additionally, r agents . Associar agents . Severalr agents ,37. Over


Acute mesenteric ischemia (AMI) is a rare life-threatening condition that causes intestinal necrosis. Prompt intervention is essential to mitigate high mortality. In this report, we describe a case of AMI where precise diagnosis using indocyanine green (ICG) imaging to confirm sufficient bowel perfusion and viability, helped in preventing intestinal resection.A 91-year-old male was diagnosed with AMI associated with superior mesenteric artery thrombosis using computed tomography and underwent exploratory laparotomy. Under white light, there was no outward evidence of small-bowel necrosis. Hence, ICG was used to confirm adequate bowel perfusion and viability. The operation was terminated without resection of the small intestine. When anticoagulation therapy was initiated postoperatively, the thrombus subsided. Although the patient had no subsequent recurrence, he died of dysphagic pneumonia two months after the surgery.Physicians often choose to perform trial laparotomy to diagnose intestinal ischemia due to AMI.However, it was difficult to assess the viability of the entire intestinal tract using white light alone, and the introduction of ICG in the evaluation of intestinal perfusion will facilitate the identification and objective evaluation of the intestinal ischemic zone. There have been few reports on application of fluorescent-guided determination of the viable zone of the small intestine, which will help surgeons to make precise diagnosis.This case demonstrates ICG fluorescence imaging as a useful method for objectively assessing bowel viability. •Laparotomy was performed in a patient with acute mesenteric ischemia.•Indocyanine green was used since necrosis was not detected under white light.•Precise diagnosis using Indocyanine green prevented small bowel resection. CT with intravenous contrast revealed superior mesenteric artery (SMA) occlusion and sparse contrast enhancement in the small intestine. Hence the patient was diagnosed with intestinal ischemia associated with SMA thrombosis . Blood t3AMI can be classified based on abnormalities, including arterial embolism, arterial thrombosis, venous thrombosis, and nonocclusive mesenteric ischemia The evaluation of blood flow using ICG fluorescence imaging has been applied in breast reconstruction, coronary artery bypass grafting, and colorectal resection. The novel application of ICG during bowel perfusion facilitated the identification and objective assessment of the bowel ischemic zone In the current case, the patient did not receive anticoagulation for atrial fibrillation, and the AMI was attributed to an intra-atrial thrombus. During laparotomy, the degree of necrosis of the small and large intestines was not discernible by white light visualization, until the application of ICG. ICG fluorescence showed that the blood flow to the intestinal tract was not completely interrupted. Therefore, the patient did not require an excessively invasive procedure such as resection of the small intestine. There have been few reports of fluorescent guidance being used to determine if the small intestine is damaged to the point of non-viability at the time of surgery. If this method can be utilized, as in this case, it would be a useful aid for surgeons to make an early and precise diagnosis.4Prompt surgical intervention of AMI is vital to save patients' lives. The uncertainty involved in diagnosis often leads to over-intervention, since surgeons must quickly determine the extent of bowel ischemia. Our case demonstrates that ICG fluorescence imaging is an effective method for determining the quality of intestinal perfusion and objective assessment of intestinal viability. This will help in the precise diagnosis and better management of AMI.Written informed consent was obtained from the patient's family for publication of this case report and accompanying images.None.N/A.The authors declare that they have no conflicts of interest.


Caudal duplication syndrome (CDS) is a rare congenital anomaly in which a wide spectrum of malformations ranging from partial or isolated to complete duplication of caudal organs in the gastrointestinal tract (GIT), genitourinary tract (GUT), and spinal and neural systems occur. Its exact cause is unknown, however various factors such as genetic disorders and conjoined twinning are mentioned in the etiology of CDS. Second-trimester anomaly scan can diagnose this anomaly prenatally.This case report describes a primi postnatal patient with CDS without any neurological symptoms. She gave birth to a healthy baby girl by cesarean section with breech presentation as an indication. Duplication of the genitourinary system, colon, distal spine, spinal cord, and lower limb is a complex and very rare congenital condition known as “caudal duplication syndrome” (CDS). This syndrome was first described by Dominguez et al. . It is sVarying degrees of duplication of the external genitalia, cervix and uterus, bladder, colon, anus, distal spine, and limbs  are showHere we report a case of a 28-year-old postnatal patient from a low- to middle-class background. She came to the radiology department on the third day of her first delivery by cesarean section due to breech presentation. She was sent for an ultrasound scan to rule out post-cesarean section pelvic collection, which was actually a double urinary bladder.An ultrasound scan revealed uterine didelphys with a left-sided postnatal bulky uterus and a right-sided non-gravid uterus. Furthermore, two separate cervices, vaginal canals, urinary bladders, and rectum were seen. She had mild left-sided hydronephrosis with proximal hydroureter. The right kidney and ovaries were unremarkable.On clinical examination, she had duplicated external genitalia Figure  and analHer computed tomography (CT) scan abdomen and pelvis confirmed duplicated colon, rectum, anal canals, uterus Figure , cervix,CDS is a rare congenital anomaly with only about 42 cases of CDS documented in literature till 2018 . HoweverThese patients are initially assessed at their birth because of obvious perineal features. Because of the low incidence of CDS and less awareness about this entity, an antenatal examination can detect a group of severe anomalies but might not recognize this as CDS . Most caIn a nutshell, very little is written in literature about this rare syndrome. Extensive diagnostic workup may be required in some cases to analyze the anatomy of CDS patients which will help in the proper management of the patient. Investigations like ultrasound, x-ray radiography, barium enema, micturating cystourethrogram, CT scan, and MRI scan should be carried out. CDS is a rare entity and a lot of research work is needed to be done for a proper understanding of its etiology, diagnosis, management, and awareness.


Traumatic intracranial pseudoaneurysms (tIPAs) are a very rare pathology caused by blunt or penetrating head trauma. Diagnostic and therapeutic challenges of tIPAs are due to their unpredictable onset during the initial injury, or in a delayed manner, their unclear traumatic mechanism. Moreover, the presence of subarachnoid, subdural, or intraventricular hematoma may often cause them to be overlooked, which can potentially be followed by lethal rebleeding. Treatment of these lesions is controversial and on a case-by-case basis with regard to endovascular therapy or open surgery. We report two cases of three tIPAs of the distal anterior cerebral artery (dACA) with immediate and delayed onset after the trauma. Endovascular therapy resulted in complete obliteration of lesions with flow preservation in the parent artery using the flow diverter-assisted coiling strategy. The aim of this manuscript is to discuss the mechanism, angioanatomical characteristics, and current treatment options for these exceptional lesions. Intracranial pseudoaneurysms (IPA) are a rare nosological entity representing less than 1% of all intracranial aneurysms. More importantly, they cause a total morbidity of 20% ,4,5. ThePresence of a tIPA should be considered in any atypical intracranial hematoma in the near proximity of the larger feeding artery. Early detection using the CT angiography (CTA) with subsequently performed digital subtraction angiography (DSA) is mandatory.The treatment options for tIPAs are either conservative management or an active approach via microsurgical or endovascular techniques. Neurosurgical techniques include clipping, wrapping, trapping, or resection of the pseudoaneurysm with a reconstruction of the flow. Although the direct surgical approach is risky due to the high rate of intraoperative ruptures, it can effectively decompress the surrounding hematoma and thus lower the intracranial hypertension . EndovasThe aim of this manuscript is to present treatment options in rare cases of tIPAs of dACA following penetrating and blunt trauma accidents treated in our department. Currently, there are no guidelines or larger prospective studies on treatment of tIPAs. We are presenting two case reports that were treated by endovascular techniques focused on preserving the flow in the parental artery.A 37-year-old healthy male was presented to the senior consultant of the Department of Neurosurgery, University Hospital Hradec Kralove, after having fallen onto an iron bar during a state of alcohol intoxication. An acutely performed CT of the head showed a penetrating open injury of the frontal lobe through the left frontal sinus accompanied by a minor intracerebral hematoma and interhemispheric subdural hematoma A. CTA shA 42-year-old man was presented after a serious motorcycle accident. Immediately after the accident, he was conscious, with serious fractures to his left lower limb. He was sedated and intubated and transported by air rescue service into the trauma center of University Hospital Hradec Kralove. A trauma protocol whole-body CT and CTA were performed, showing multiple extremity bone fractures and also an average size pericallosal hematoma deforming the corpus callosum A,B. The Traumatic pseudoaneurysms of the distal anterior cerebral artery are a rare complication following penetrating or blunt head trauma. Several mechanisms have been proposed to explain the formation of a tIPA depending on the initial force. Direct penetrating trauma causes tIPAs, usually by bone fragments, various missiles, or sharp stabbing weapons. These may undoubtedly lead to injury of the arterial wall with the formation of the pseudoaneurysm. High-energy missiles tend to completely disrupt the continuity of the vessels, whereas lower-velocity bullets and their fragments tend to injure and tear the vessel wall without transecting the lumen. Therefore, low-energy missiles have a higher probability of developing a tIPA. On the other hand, blunt head injury leads to indirect vascular trauma by impact of the vessel wall against a bony or dural spur—the falx, the tentorium, or the sphenoid ridge . Most ofFollowing severe traumatic brain injury, imaging studies are mandatory. Computed tomography (CT) remains the gold standard for first-line imaging and is often supplemented with CT angiography (CTA). In the event that CTA confirms tIPA, the patient is transported as soon as possible to the digital subtraction angiography (DSA) workstation. The typical finding of the DSA is a globular aneurysmal sac without a neck, with late filling and stagnation of the contrast agent. In the case of a negative finding on DSA, repeated examination is considered in the following days to rule out delayed tIPA. The optimal timing for repeated DSA is still a matter of debate. Magnetic resonance angiography (MRA) is not usually employed in the acute phase as it has much lower sensitivity in tIPAs .Treatment of dACA tIPAs is complex because they pose a real challenge due to the combination of a small parent vessel with limited collateral circulation. The lack of a neck and a well-formed wall make these pseudoaneurysms difficult to treat either by microsurgical or endovascular techniques and require case-by-case decision making.In the past, most dACA tIPAs were treated surgically. Simple clipping of the pseudoaneurysm is often not feasible due to the absence of the aneurysmal neck and a proper wall. Thus flow remodeling by trapping with various revascularization strategies requiring EC-IC or IC-IC bypass may be chosen. With regard to the EC-IC bypass, it is usually quite a complicated procedure as the superior temporal artery (STA) is rarely long enough to reach the interhemispheric fissure. Revascularization, therefore, requires the harvesting of the arterial graft with two microanastomoses which increase the rate of bypass failure. However, the bypass occlusion rate in high-flow centers is probably low—Lawton et al. published a 97% patency rate in their exceptional series of 430 bypasses . The IC-Non-surgical treatment includes various types of endovascular therapy for tIPA. The distal location makes endovascular access sometimes difficult . The deconstructive treatment of a tIPA by occluding the injured artery requires sufficient collateral flow . GrossbeIn this work, we have presented two cases of newly developed tIPAs in young adults with early and delayed onset following penetrating and blunt head injury. Case 1 presented a delayed formation of multiple tIPAs following the direct trauma of the vessel wall. Despite suspicion of the arterial trauma during the initial trauma due to the proximity of the penetrating object, no such signs were observed on the CTA nor during the surgical revision. However, as in our case, it is known that even angiography is often negative and 20% of traumatic aneurysms may regress, enlarge, or form late ,23. To tTreatment decision-making in Case 2 was affected by the presence of a traumatic intracerebral hematoma, which was compressing the corpus callosum. Surgical management has the advantage of rapid decompression of the involved structures. However, it is well known that direct surgery for traumatic dACA aneurysm has a higher risk 18–22%) of surgical complications than other supratentorial aneurysms 8–22% of .Most of the previous described cases of tIPA of the pericallosal arteries were treated by parent artery occlusion (PAO) ,25,26,27Endovascular treatment by stent-assisted embolization of traumatic pseudoaneurysms of the distal anterior cerebral artery has been shown as a viable and safe option for achieving elimination of the pseudoaneurysm while preserving flow in the parent artery.