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Introduction: Insulinomas are the most common functional pancreatic neuroendocrine tumors (PNETs) that lead to incapacitating hypoglycemia. Guidelines recommend surgical resection as the mainstay of management. However, surgery is fraught with complications, causing significant peri/post-operative morbidity. Since insulinomas are usually benign, solitary, small (<2 cm), and do not need lymphadenectomy, hence, in this regard, endoscopic ultrasound-guided radiofrequency ablation (EUS-RFA) is now being increasingly performed, to circumvent these adverse events and impairment of pancreatic function., Areas Covered: A comprehensive literature search was undertaken across various databases (PubMed/MEDLINE, Embase, Scopus), with no language restriction, for relevant articles (case series, reviews, case reports) pertaining to EUS-RFA for insulinoma and PNETs, till October 2023. In this review, we have explicated the role of EUS-RFA for insulinoma management, detailing thoroughly its mechanism of action, EUS-RFA devices with data on its safety and efficacy, and an algorithmic approach for its management., Expert Opinion: EUS-RFA is being advocated as a 'mini-invasive' option with the potential to replace surgery as a first-line approach for benign, sporadic, solitary, and small (<2 cm) insulinomas. Under real-time guidance, EUS-RFA has immense precision, is safe, predictable, with acceptable safety profile. Presently, it is being frequently performed for high-risk or inoperable candidates. Current need-of-the-hour is a randomized controlled trial to substantiate its role in the therapeutic algorithm for insulinoma management.

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a disease caused by mutations in the MEN1 tumor suppressor gene leading to hyperparathyroidism, pituitary adenomas, and entero-pancreatic neuroendocrine tumors. Pancreatic neuroendocrine tumors (PNETs) are a major cause of mortality in patients with MEN1. Identification of consistent genotype-phenotype correlations has remained elusive, but MEN1 mutations in exons 2, 9, and 10 may be associated with metastatic PNETs; patients with these mutations may benefit from more intensive surveillance and aggressive treatment. In addition, epigenetic differences between MEN1-associated PNETs and sporadic PNETs are beginning to emerge, but further investigation is required to establish clear phenotypic associations., Competing Interests: Conflict of interests The authors declare no conflict of interest., (Published by Elsevier Inc.)

Objective: To evaluate the immediate results of enucleation of pancreatic neuroendocrine tumors (pNETs)., Material and Methods: The results of enucleation of pancreatic neuroendocrine tumors (pNETs) were analyzed in 95 patients between 2016 and 2021. Functioning tumors (mean size 16.8 mm) were found in 70 patients, non-functioning (mean size 25 mm) - in 25 patients. Intraparenchymal tumors were found in 48 people, extraorganic lesion - in 47 patients., Results: There were 262 patients with pNETs who underwent various surgeries between 2016 and 2021. Various resections were performed in 167 (63.8%) cases, enucleations - in 95 (36.2%) patients. Traditional surgical approach was used in 65 patients. Pancreatic fistula occurred in 21 patients (type B - 17, type C - 4), while arrosive bleeding occurred in 6 patients with unfavorable outcomes in 2 cases. Minimally invasive surgeries were performed in 30 patients. Eight patients with intraparenchymal tumors required conversion to open surgery. Type B pancreatic fistula occurred in 5 patients that led to arrosive bleeding in 2 cases (hemostasis was provided by endovascular method). Comparison of intraparenchymal and extraorgan tumors regarding the incidence of pancreatic fistula revealed odds ratio 5.26 (95% CI 1.5355; 18.0323, p =0.0041). Postoperative mortality was 2.1%., Conclusion: Enucleation is advisable for highly differentiated pancreatic neuroendocrine tumors up to 2 cm. Minimally invasive enucleation is indicated for extraorgan tumors. Intraparenchymal tumors significantly increase the risk of postoperative complications.

Von Hippel-Lindau disease (VHL) is frequently associated with pancreatic neuroendocrine tumors (PNETs). Here, we report a case of tumor-to-tumor metastasis in a VHL patient in whom colon cancer metastasized to the interior of a PNET. A 65-year-old man had undergone bilateral adrenalectomy for pheochromocytomas in both adrenal glands in his 50 s. Genetic screening was performed considering his family history of pheochromocytoma, and he was diagnosed with VHL. PNET was detected, for which the patient was regularly monitored by follow-up imaging. One year ago, the patient underwent right hemicolectomy to remove a tumor in the ascending colon (pT3N0M0, pStage IIA). He was admitted to our department for detailed examination because the pancreatic tumor had grown, and thus, pancreaticoduodenectomy was performed. Diagnostic imaging and histological findings indicated tumor-to-tumor metastasis, in which the patient's previous colon cancer had metastasized to and proliferated within the PNET. Colon cancer metastasizing to a PNET is extraordinarily rare and has never been reported in the literature. Thus, practitioners should be vigilant for tumor-to-tumor metastasis when performing imaging surveillance of PNETs., (© 2022. The Author(s).)

On August 13, 2021, the FDA approved belzutifan (WELIREG, Merck), a first-in-class hypoxia-inducible factor (HIF) inhibitor for adult patients with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery. The FDA granted approval based on the clinically meaningful effects on overall response rate (ORR) observed in patients enrolled in Study MK-6482-004. All 61 patients had VHL-associated RCC; some also had CNS hemangioblastomas and/or pNET. For VHL disease-associated RCC, ORR was 49% [95% confidence interval (CI), 36-62], median duration of response (DoR) was not reached, 56% of responders had DoR ≥12 months, and median time to response was 8 months. Twenty-four patients had measurable CNS hemangioblastomas with an ORR of 63% (95% CI, 41-81), and 12 patients had measurable pNET with an ORR of 83% (95% CI, 52-98). For these tumors, median DoR was not reached, with 73% and 50% of patients having response durations ≥12 months for CNS hemangioblastomas and pNET, respectively. The most common adverse reactions, including laboratory abnormalities, reported in ≥20% were anemia, fatigue, increased creatinine, headache, dizziness, increased glucose, and nausea. Belzutifan can render some hormonal contraceptives ineffective and can cause embryo-fetal harm during pregnancy. This article summarizes the data and the FDA thought process supporting traditional approval of belzutifan for this indication., (©2022 American Association for Cancer Research.)

We aimed to further characterize pancreatic involvement in tuberous sclerosis complex (TSC), with a focus on management of TSC-associated nonfunctional pancreatic neuroendocrine tumors (PNETs). This was a retrospective chart review of a large cohort of TSC patients. A total of 637 patients with a confirmed diagnosis of TSC were seen at the Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital. Of the 637 total patients with a confirmed diagnosis of TSC, 28 patients were found to have varying pancreatic findings ranging from simple-appearing cysts to well-differentiated PNETs. Thirteen of the 28 patients had PNET confirmed on pathology; 10 of these tumors were resected at Massachusetts General Hospital. None of the patients had serious perioperative or postoperative complications; only one of the patients had a recurrence following resection. As roughly 4.4% of our TSC patient population had pancreatic involvement, surveillance abdominal imaging should include evaluation of the pancreas instead of limiting to a renal protocol. Additionally, given the low risk of complications and recurrence combined with documented risk of metastasis in TSC-associated PNET, TSC patients with pancreatic lesions suspicious for PNETs should be considered as surgical candidates., (© 2022 Wiley Periodicals LLC.)

Children with human immunodeficiency virus (HIV) infection are reported to have various malignancies, most common being Non-Hodgkin lymphoma. Despite higher risk of malignancies, brain tumors are infrequently described in these children. We report Primitive Neuroectodermal tumor (PNET) in a young boy with HIV infection. PNET has never been described in association with HIV infection. Though a causative association cannot be established, it does emphasize that with longer survivals on effective antiretroviral therapy, we may see a wide range of malignancies more frequently., (© The Author(s) [2019]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Type IIIb dysplasia is a subtype of focal cortical dysplasia associated with a tumor, most frequently with gangliogliomas then with dysembryoplastic neuroepithelial tumors (DNETs). Their preoperative diagnosis often remains equivocal since specific features are missing. The functional results (i.e., seizure free) is good with 81%-87% of Engel Ia at 5-year follow-up., Case Description: A 4-year-old boy presented with a 1-year history of severe, invalidating, drug-resistant epilepsy. Imaging workup demonstrated a huge left limbic lesion, of which diagnosis remained speculative. Because of worsening neurological status, resective surgery was recommended after multidisciplinary discussion. The resection was performed through left transtemporal approach under neuronavigation (C.R.). Postoperative magnetic resonance imaging assessed uncomplicated near-total resection. Histopathological analysis showed combined features of a DNET of nonspecific type and a focal cortical dysplasia., Conclusion: We describe a rare condition of type IIIb dysplasia combining a focal cortical dysplasia with a DNET. Preoperative diagnosis of the lesion was of utmost difficultly, thereby rendering mandatory a thorough histopathological examination of resected specimen in the vast majority of cases. Increased recognition of the condition brings up the hypothesis of a genetic continuum or linkage between the 2 conditions. Functional results on seizure activity after ablative surgery are good and maximal safe resection should be the goal., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Intraocular medulloepithelioma is a rare congenital tumor that arises from the nonpigmented epithelium of the ciliary body. It is the second most common primary intraocular neoplasm during the first decade of life. It may present with an iris mass or cyst (56%), glaucoma (48%), cataract (26%), leukocoria (18%), decrease in vision (41%), or pain (30%). Here, the authors present a case of a medulloepithelioma investigated with multimodal imaging, including the first characterization with intraoperative optic coherence tomography. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:314-317.]., (Copyright 2019, SLACK Incorporated.)

The occurrence of second malignant neoplasms in patients with Langerhans cell histiocytosis is infrequent but has been reported. Here we report the case of a child with refractory Langerhans cell histiocytosis who was treated with cladribine and later developed a secondary intracranial primitive neuroectodermal tumor. The possible association of cladribine with second neoplasm is further discussed.

The primitive neuroectodermal tumors (PNETs) of the spine are rare. They are usually intramedullary and reported in children. We herein report an epidural PNET of lumbosacral area presenting with the cauda equina syndrome in an adult. A 38-year-old woman presented to our emergency room with acute onset lower extremity weakness and urinary incontinence. Emergent magnetic resonance imaging revealed a mass lesion isointense on T1-weighted and heterogeneously hyperintense in T2-weighted images in the epidural lumbosacral area. The patient underwent emergent laminectomy of L1-L3 and total resection of the lesion. The patient"s neurological examination improved dramatically after the surgery and after 6-month of follow-up, she was neurologically intact. The histopathological and immunohistochemical evaluations revealed PNET. Epidural PNET of the spinal column, although rare, can present with an acute neurological deficit. Surgery remains the treatment of choice and immunohistochemistry is required for confirming the diagnosis.

Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET) in the kidney is a rare but high-grade malignant tumor that affects predominantly elder children and adolescents. Patients mostly present with nonspecific symptoms such as abdominal pain and gross hematuria. Since EWS/PNET has a rapid clinical progression with early metastasis and death, it is essential to make an accurate and early diagnosis. Once diagnosed, multimodality treatment, including radical surgery combined with adjuvant chemotherapy, and radiotherapy if necessary, is recommended. Unfortunately, there are no characteristic signsthat have been described in ultrasonography or any other imaging modalities so far. The diagnosis of EWS/PNET is now based on a classical histological and immunohistochemical investigation complemented by a demonstration of specific chromosomal changes. Strong immunoreactivity to CD99 is ubiquitous, and t(11;22) translocation is seen in approximately 90% of EWS/PNET. Herein, we report a patient with such condition. The patient was a young woman, and she presented with sudden right flank pain clinically. Ultrasonography revealed a large heterogeneous mass in the lower pole of her right kidney. The tumor compressed the renal pelvis and led to upper pole caliectasis. Color Doppler demonstrated blood flow with a pulsatile arterialized waveform within the mass. The patient received radical nephrectomy with right renal vein and vena cava thrombectomy. A search for other sites of tumor involvement yielded negative results. And six cycles of chemotherapy were sequentially performed. The diagnosis of EWS/PNET was confirmed based on primitive small round cell histology and characteristic immunohistochemical results. She was still alive with no evidence of recurrence five years after initial diagnosis. We would like to point out that ultrasound is still a useful method for initial assessment, and ultrasound-guided fine needle aspiration may play an important role in determining preoperative diagnosis.

A 24-year-old woman who had melena, dizziness, and fatigue and looked pale for 2 months was confirmed to have a microcytic hypochromic anemia in the local hospital. It was further revealed that the patient had splenomegaly and a small intestinal lump, and she was then referred to our hospital. The enhanced CT showed an ileal lesion with enhancement, which showed an increased F-FDG activity in further PET/CT scanning. Lymphoma was therefore suspected, and an uncomplicated surgical resection of the ileal lesion was then performed. Nevertheless, the histopathologic and immunohistochemical examination was finally proved to be a rare ileal Ewing sarcoma/primitive neuroectodermal tumor.

Purpose: To summarize the clinical and radiologic features of pediatric basal ganglia region tumors (PBGRT) in correlation with their histopathologic findings to reduce inappropriate surgery and identify tumors that can benefit from maximal safe resection., Methods: The records of 35 children with PBGRT treated in our hospital from December 2011 to December 2015 were analyzed retrospectively. The clinical and radiologic features of these tumors were summarized and correlated with their histopathologic diagnosis., Results: Our series included 15 astrocytomas and 11 germ cell tumors (GCTs). Basal ganglia astrocytomas were characterized by various clinical presentations and an ill-circumscribed mass with the involvement of surrounding structures on neuroimaging and mostly occurred in the first decade of life (n = 10; 66.7%). Basal ganglia GCT mostly occurred in the second decade of life (n = 8; 72.7%) with hemiparesis as the most common symptom (n = 9; 81.8%). The tumors were located predominantly in the caput of caudate nucleus (n = 8; 72.7%) with hemiatrophy as the typical sign (n = 8; 72.7%). Occasionally, other tumors also could occur in this region, including primitive neuroectodermal tumor (n = 1), atypical teratoid/rhabdoid tumor (n = 1), anaplastic ependymoma (n = 1), lymphoma (n = 1), extraventricular neurocytoma (n = 1), gangliogliomas (n = 2), oligodendroglioma (n = 1), and dysembryoplastic neuroepithelial tumor (n = 1)., Conclusions: Astrocytoma and GCT are the most common PBGRTs. Low-grade astrocytomas could benefit from maximal surgical resection, whereas GCTs merit neoadjuvant chemoradiation therapy followed by second-look surgery. We advocate routine testing of tumor markers and analysis of their clinical and radiologic features to optimize the therapeutic strategy., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Medulloblastoma is the most common malignant childhood brain tumor, although long-term risks for chronic neurologic health and psychosocial functioning in aging adult survivors are incompletely characterized., Methods: The Childhood Cancer Survivor Study (CCSS) includes 380 five-year survivors of medulloblastoma/primitive neuroectodermal tumor (PNET; median age at follow-up: 30 y, interquartile range 24-36) and sibling comparison (n = 4031). Cumulative incidence of neurologic health conditions was reported. Cox regression models provided hazard ratios (HRs) and 95% CIs. Cross-sectional outcomes were assessed using generalized linear models., Results: Compared with siblings, survivors were at increased risk of late-onset hearing loss (HR: 36.0, 95% CI: 23.6-54.9), stroke (HR: 33.9, 95% CI: 17.8-64.7), seizure (HR: 12.8, 95% CI: 9.0-18.1), poor balance (HR: 10.4, 95% CI: 6.7-15.9), tinnitus (HR: 4.8, 95% CI: 3.5-6.8), and cataracts (HR: 31.8, 95% CI: 16.7-60.5). Temporal/frontal lobe radiotherapy of 50 Gy or more increased risk for hearing loss (HR: 1.9, 95% CI: 1.1-1.3), seizure (HR: 2.1, 95% CI: 1.1-3.9), stroke (HR: 3.5, 95% CI: 1.3-9.1), and tinnitus (HR: 2.0, 95% CI: 1.0-3.9). Survivors were less likely than siblings to earn a college degree (relative risk [RR]: 0.49, 95% CI: 0.39-0.60), marry (RR: 0.35, 95% CI: 0.29-0.42), and live independently (RR: 0.58, 95% CI: 0.52-0.66)., Conclusions: Adult survivors of childhood medulloblastoma/PNET demonstrate pronounced risk for hearing impairment, stroke, lower educational attainment, and social independence. Interventions to support survivors should be a high priority., (© The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com)

Primitive neuroectodermal tumours (PNET) are highly malignant tumours with an aggressive clinical behaviour. Commonly seen in children, they are uncommon in the adult population, and rare in the supratentorial location. Adult supratentorial PNETs (ST-PNET) typically present with symptoms relating to raised intracranial pressure, seizures, or focal neurological deficits. Presentation with intracranial haemorrhage has been reported only twice before in the literature, one of which was fatal. We report the case of intracranial haemorrhage secondary to ST-PNET in a young adult and her immediate management., (Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.)

Primitive neuroectodermal tumors (PNETs) are easily detected, and the diagnosis made by neuroradiologic imaging. Leptomeningeal seeding is a common complication and carries a poor prognosis. Primary leptomeningeal PNETs are rarer and difficult to diagnose on magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF) studies. We encountered a rare case of primary leptomeningeal primitive neuroectodermal tumor without intracranial mass lesion which was diagnosed by spinal lesion biopsy. This 25-year-old woman presented with worsening headaches and progressive visual impairment.The initial diagnosis was tubercle bacillus (TB) meningitis, and the final diagnosis of primary leptomeningeal PNET was made by spinal biopsy. We present this illustrative case, review previous cases in the literature, and suggest that diagnosis is considered in mildly affected patients with similar symptoms.

Primitive neuroectodermal tumors (PNET) of the central nervous system (CNS) are a heterogeneous group of embryonal malignancies that are composed of undifferentiated or poorly differentiated neuroepithelial cells. Supratentorial PNET is the second most common CNS embryonal malignancy in children, but it is rare in adults. We report the case of a 31-year-old woman with bilateral vision loss and a bitemporal hemianopia. Neuroimaging revealed a suprasellar mass, and pathology was consistent with PNET. After surgical debulking of the tumor followed by radiation therapy and chemotherapy, the patient had significant visual recovery and remained stable over 14 months of follow-up.

We experienced a rare case of an endobronchial primitive neuroectodermal tumor of the left main bronchus. Initially we suspected pneumothorax caused by a collapsed left upper lobe and an air-entrapped lower lobe. After tube thoracostomy, the pneumothorax persisted without air leakage. A tumor was detected at the left main bronchus on computed tomography and bronchoscopy, and diagnosed pathologically as small cell lung cancer. Under the presumed diagnosis of limited-stage small cell lung cancer, we performed a left pneumonectomy. The tumor was eventually identified pathologically as a primitive neuroectodermal tumor. Although adjuvant chemoradiotherapy was not performed, no recurrence was observed., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Aims: Recent evidence supports the activation of mechanisms underlying cellular ageing and neurodegeneration in developmental lesions associated with epilepsy. The present study examined the ongoing cell injury and vulnerability to neuronal degeneration in glioneuronal tumours (GNT)., Methods: We evaluated a series of GNT (n = 31 gangliogliomas, GG and n = 30 dysembryoplastic neuroepithelial tumours, DNT). Sections were processed for immunohistochemistry using markers for the evaluation of caspase-3 and neurodegeneration-related proteins/pathways and their expression was correlated with the tumour features and the clinical history of epilepsy., Results: Both GG and DNT specimens contained caspase-3-positive cells. In GG, expression of activated caspase-3 was negatively correlated the with the BRAF V600E mutation status. We also observed an abnormal expression of death receptor-6 and β-amyloid precursor protein (APP). Moreover, dysplastic neurones expressed p62, phosphorylated (p)TDP43 and pTau. Double labelling experiments showed colocalization of phosphorylated S6 (marker of mammalian target of rapamycin, mTOR, pathway activation) with pTau and p62. In GG, neuronal p62 expression was positively correlated with pS6. The immunoreactivity score (IRS) of caspase-3, APP, DR6, p62 and pTDP43 were found to be significantly higher in GG than in DNT. Expression of APP, DR6, pTau (in GG and DNT) and caspase-3 (in GG) positively correlated with duration of epilepsy. In GG, the expression of neuronal caspase-3, DR6 and glial p62 was associated with a worse postoperative seizure outcome., Conclusions: Our observations in GNT provide evidence of premature activation of mechanisms of neurodegeneration which are associated with the clinical course of epilepsy in patient with GG., (© 2014 British Neuropathological Society.)

Ependymoblastoma (EBL) is a rare malignant CNS tumor of early childhood, listed as a subgroup of primitive neuroectodermal tumors (PNET) in the 2007 WHO Classification of Tumours of the Central Nervous System. Histologically, EBL can be defined by multilayered, mitotically active "ependymoblastic" rosettes with central lumen as a histological hallmark. The prognosis seems to be far inferior to other embryonal CNS tumors, and known clinical and MRI characteristics of EBL are based on scattered case reports. We present and discuss two uncommon cases of histopathologically confirmed ependymoblastoma that both seem to originate from the brainstem., (© 2014 Wiley Periodicals, Inc.)

Aim: This case report provides insight into the function of the anterior prefrontal cortex (aPFC), specifically Brodmann Area 10 (BA10), and its interconnectivity., Method: We present a 10-year-old patient with lesional epilepsy and ictal onset, localised to BA10 in the aPFC., Results: Thirty-four seizures were recorded. All seizures involved a demonstration of elation with laughter that was associated with a variety of different patterns of complex motor behaviour that included performing specific celebratory movements and acting out a Michael Jackson dance move. Electrographically, the seizures were all stereotyped and arose from the right frontal region, followed by a distinct left temporal ictal rhythm that corresponded with the onset of the behaviours. The lesion in the right aPFC was identified as a mixed lesion with both dysembryoplastic neuroepithelial tumour cells and type II cortical dysplasia., Conclusion: The electrographic analysis and unique seizure semiology suggest a connection between the aPFC and the contralateral temporal lobe. This neural pathway appears to be involved in the activation of previously formed procedural memories, creating an intensely positive emotional experience.

We report the case of a 44-year-old man who experienced a fatal and untreatable delayed vasospasm after resection of a recurrent temporal IV grade primitive neuroectodermal tumor (PNET). The histological analysis demonstrated a rare rhabdoid variant of the tumor with a diffuse myxoid degeneration; molecular investigations demonstrated an upregulation of IL-1β and IL-6 expression in the recurrence. We reviewed the pathophysiology of the vasospasm that occurs after tumors resection, and due to the rarity of case, we speculated on the possibility that specific histological and molecular features of the tumor could have contributed to the delayed and fatal complication.

Background: Intraocular medulloepithelioma is a childhood tumor arising from the nonpigmented primitive ciliary neuroepithelium. Although rarer than retinoblastoma, it remains the second most common primary intraocular neoplasm in children. The rarity of intraocular medulloepithelioma creates the challenge in establishing a clinical diagnosis, and radiologically the tumor is often confused with other intraocular masses., Objective: To describe the clinical, imaging and pathological features of intraocular medulloepithelioma with emphasis on the role of imaging to enable its differentiation from more common intraocular pathology., Materials and Methods: We retrospectively analyzed the clinical, histopathological and imaging data of four children with intraocular medulloepithelioma., Results: All four children had medulloepithelioma arising from the ciliary body. The children were imaged with US (n = 3), MRI (n = 4), whole-body (99m)Tc-MDP scintigraphy (n = 2) and CT (n = 1). All four children had enucleation of the involved eye. One tumor was a malignant teratoid variant, two tumors were malignant nonteratoid variants and one was a nonteratoid variant of uncertain malignant potential. None of the tumors had extraocular extension on histopathology or imaging. Two children had associated retinal detachment on US and MRI examinations. All tumors were iso/hyperintense to vitreous on T1-weighted and hypointense on T2-weighted MRI and showed marked contrast enhancement of the solid components. No calcifications were identified on US or CT examinations., Conclusion: Our findings are consistent with previously reported cases of medulloepithelioma. This series emphasizes the roles of various imaging modalities, with pathological correlation, in differentiating the tumor from other ciliary body masses, in detecting tumor extension and in identifying associated ocular complications. In this series we also describe the results of postsurgical follow-up for tumor recurrence.

Spinal primitive neuroectodermal tumors are exceedingly rare. Herewith, we present the first case of an intramedullary spinal cord tumor associated with hydrocephalus in a 2-month-old boy that presented with left hemiparesis. The patient had been diagnosed on prenatal ultrasound with enlarged ventricular system. At his current admission, a brain magnetic resonance imaging (MRI) revealed hydrocephalus and an intramedullary lesion extending from the second cervical to the first thoracic vertebrae. Dissemination of the tumor was revealed intracranially and in the spinal canal. After a ventriculoperitoneal shunt placement a radical resection of the tumor was performed, however some small tumor remnants could not be safely removed. Postoperative there was no neurologic deterioration. The tumor was diagnosed as a central nervous system primitive neuroectodermal tumor (World Health Organization grade IV). Spinal intramedullary primitive neuroectodermal tumors are extremely rare. In such rare tumors, multiinstitutional studies are needed for treatment guidelines to be established.

Combination chemotherapy is associated with cutaneous and mucosal side effects. Antineoplastic agents have been associated with mucosal and nail pigmentation. We describe a 16-year-old Saudi Arabian girl with combination chemotherapy-associated black tongue hyperpigmentation and blue lunula. The diagnosis of drug-associated pigmentary changes is based on correlating the onset of the clinical observations with the temporal initiation of the patient's chemotherapy agents. Spontaneous fading of antineoplastic therapy-induced tongue or nail dyschromia may subsequently occur following discontinuation of the causative drug.

Primitive neuroectodermal tumor (PNET) arising in the urinary bladder is extremely rare. Here, we report a case of primary PNET of the urinary bladder in an aged Asian man that showed an aggressive clinical course. A 74-year-old man presented with frequency, dysuria, and gross hematuria. Pelvic computed tomography showed a mass in the urinary bladder. Microscopically, the tumor revealed sheets of uniform, small, round, blue cells, and immunohistochemical examination demonstrated primary PNET of the urinary bladder. Palliative chemotherapy was administered. After three courses of chemotherapy, his disease progressed and he died 4 months after diagnosis.

Uterine primitive neuroectodermal tumours are extremely rare tumours. They can occur in pure form or combined with another component including endometrioid adenocarcinoma. We aimed to review the clinical impact of neuroectodermal phenotype in uterine tumours, after we recently diagnosed one such case. A 58-year-old female presented with irregular vaginal bleeding. Ultrasonography and CT showed the presence of a large uterine mass with irregular contours. At laparotomy it was found to extend to the right ureter, sigmoid colon and some small intestinal loops. Microscopic examination revealed that the tumour consisted of an endometrioid adenocarcinoma component merging with an extensive neuroectodermal component. No EWSR1 or FUS rearrangement was found in the two tumour components. The patient received two courses of chemotherapy but died 11 months after the initial diagnosis. We reviewed the morphological and molecular criteria for the diagnosis of uterine primitive neuroectodermal tumours published in the literature. We conclude that regardless of the detection of an EWSR1 rearrangement, the presence of a neuroectodermal differentiation component in these rare uterine tumours is a marker of aggressive behaviour, and its presence should be highlighted in the diagnosis.

The authors report an unusual presentation of a rare tumor in childhood, a pancreatic primitive neuroectodermal tumor invading the duodenum leading to anemia. A review of intra-abdominal primitive neuroectodermal tumors is discussed.

Extraneural metastases of central nervous system (CNS) tumors are rare occurrences most commonly observed in medulloblastomas. Survival outcomes are generally dismal. Supratentorial primitive neuroectodermal tumors (stPNET) are rare childhood tumors with few documented cases of extraneural metastases. We present a rare occurrence of a 23-month-old patient with long-term survival after diagnosis of stPNET with metastases to the lungs. This patient was treated with surgical resection, induction chemotherapy, tandem autologous hematopoietic cell rescues, and focal radiotherapy. We report long-term survival for a patient with a stPNET and extraneural metastases at diagnosis following an intensive approach to treatment., (Copyright © 2011 Wiley-Liss, Inc.)

Background: The simultaneous presence of Lhermitte-Duclos disease (LDD) with focal areas of nodular dysembryoplastic neuroepithelial tumor (DNET) differentiation in the cerebellar hemisphere is reported in a patient who showed the characteristic magnetic resonance imaging (MRI) appearance of "tiger striping"., Case Report: A 25-year-old man presented with a 7-month history of holocranial headache, progressive vision diminution, and right-sided cerebellar signs. Computed tomography (CT) scan revealed a hypodense, nonenhancing right cerebellar lesion effacing the fourth ventricle. There were thin hyperdense, linear striations across the tumor with hypodense streaks between them. The third and lateral ventricles were dilated with periventricular lucency. MRI showed the hypointense-to-isointense right cerebellar lesion with linear striations on T1-weighted images. The lesion was hyperintense on T2-weighted images with areas of linear hypointensity streaks running throughout the lesion characteristic of the "tiger striping" effect of LDD. Sagittal MRI revealed tonsillar herniation. Gross total removal of the tumor was accomplished with right paramedian suboccipital craniectomy. The postoperative course was unremarkable, and the patient remained symptom-free at 3-month follow-up examination. Histology revealed the simultaneous presence of LDD with DNET., Conclusions: To the best of the authors' knowledge, the simultaneous presence of cerebellar LDD with DNET has never been reported before. This case report may point to their common genesis with cortical dysplasia and neuronal migrational abnormalities playing an important role. LDD and DNET may represent different points in the spectrum of the lesion-from being purely hamartomatous to having a greater proliferative potential. The simultaneous presence of LDD and DNET was perhaps responsible for the unusually rapid neurologic deterioration in this patient before surgical intervention., (Copyright © 2011 Elsevier Inc. All rights reserved.)

BK virus (BKV) is an increasingly identified cause of pathology in immunocompromised transplant recipients. BKV is a well-known cause of graft dysfunction following renal transplantation and has also been reported in the native kidneys of other solid organ recipients. Less commonly, BKV nephropathy occurs in allogeneic stem-cell transplant (SCT) recipients. We now describe the first reported case of BKV nephropathy after pediatric autologous SCT., (Copyright © 2010 Wiley-Liss, Inc.)

We report the case of a voluminous tumor of the adrenal diagnosed in a young pregnant woman at 26(th) week of amenorrhea. Morphologically, a soft white tumor with haemorragic areas was observed, made of sheets of monomorphous, medium sized, spindle-shaped to polygonal, with high mitotic activity. Tumorous cells expressed cytokeratins AE1/AE3, EMA, and CD99 (expression of vimentin is not relevant). Contemplated diagnoses included poorly differentiated synovialosarcoma, sarcomatoid carcinoma and Ewing tumor. Thanks to molecular biology, showing the specific transcript of Ewing/peripheral primitive neuroectodermal tumor (pPNET) EWS/FLI1, the diagnosis of this atypical tumor in an unusual location was performed. Indeed, 75% of Ewing tumors involve bones (especially, the diaphysis of long bones) and 20 to 25% soft tissues. Primitive visceral involvement is rare; less than 10 cases of adrenal involvement have been reported. The hypothesis that Ewing cell's origin is a mesenchymal stem cell, which may derive from neural crest cell, could explain the uncommon adrenal involvement. Diagnosis of Ewing tumor is based on pathologic and molecular findings, especially in atypical cases., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

A 16-year-old boy presented with an unusual case of a supratentorial, extraaxial small round blue cell tumor of the central nervous system, which was most likely a primitive neuroectodermal tumor (PNET). Preoperative computed tomography and magnetic resonance imaging showed a large multistage hematoma in the left central region. Intraoperatively, a small, superficial tumorous lesion was found between the sagittal sinus and a large cortical vein hidden by the hematoma. The histological diagnosis was PNET. This tumor is one of the most aggressive intracerebral tumors, not only in children, so treatment strategies must be early, profound, and interdisciplinary. This case represents an important example of atypical extraaxial appearance of this lesion, which should be considered in the differential diagnosis of cortical or subcortical hemorrhage, since complete resection of this lesion is critical for the successful treatment and outcome.

Eating-induced seizures are an uncommon presentation of reflex epilepsy, a condition characterized by seizures provoked by specific stimuli. Most reports have identified aetiology associated with malformations of cortical developmental, hypoxic brain injury, previous meningoencephalitis or static encephalopathy. We present a patient with eating-induced reflex seizures, which began several years after treatment for an opercular primitive neuroectodermal tumour (PNET), and who subsequently underwent in-depth clinical and video-EEG analysis for her seizures. This patient noted rapid improvement with decreased frequency of seizure activity after treatment with valproic acid. We discuss the aetiology of reflex epilepsy, the anatomical basis of eating-induced epilepsy, and review the current literature.

Medulloepithelioma is an uncommon tumour. These tumours most commonly arise in the brain and spinal cord; however, they also may arise from the optic nerve. We, herein, report a rare case of malignant non-teratoid medulloepithelioma of the optic nerve with intraocular extension., (© 2010 The Authors. Journal compilation © 2010 Royal Australian and New Zealand College of Ophthalmologists.)

Introduction: The surgical treatment of refractory epilepsy represents a large step forward in the quality of life and survival of many patients, particularly for those whose pathology is located in the temporal lobe., Aim: To concentrate the basic histological aspects of an extremely varied, although generally little known, genuinely neural pathology into one single review work., Development: The causes of refractory epilepsy with a genuinely neurohistological foundation can be either malformative or neoplastic. The former include cortical dysplasias and hippocampal sclerosis, while the latter involve the so-called glioneuronal tumours (dysembryoplastic neuroepithelial tumour, ganglioglioma) and some glial cell-related tumours., Conclusions: There is a group of disorders that are intrinsic to cerebral development and primary brain tumours which are closely related to epilepsy. Surgery applied to these processes cures epilepsy in a high percentage of cases that are resistant to pharmacological treatment.