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1.  A supratentorial primitive neuroectodermal tumor presenting with intracranial hemorrhage in a 42-year-old man: a case report and review of the literature 
Introduction
We report on a very rare case of a supratentorial primitive neuroectodermal tumor in an adult, which presented with intracerebral hemorrhage, and review the relevant medical literature.
Case presentation
A 42-year-old Caucasian man complained of a sudden headache and nausea-vomiting. The patient rapidly deteriorated to coma. An emergency computed tomography scan showed an extensive intraparenchymal hemorrhage that caused significant mass effect and tonsilar herniation. During surgery, an increased intracranial pressure was recorded and extensive bilateral decompressive craniectomies were performed. A cherry-like intraparenchymal lesion was found in his right frontal lobe and resected. The patient died in the intensive care unit after approximately 48 hours. The resected lesion was identified as a central nervous system primitive neuroectodermal tumor.
Conclusion
Supratentorial primitive neuroectodermal tumors must be considered in the differential diagnosis of space-occupying lesions in adults. Spontaneous supratentorial hemorrhage due to primitive neuroectodermal tumors is an extremely rare but potentially lethal event.
doi:10.1186/1752-1947-7-86
PMCID: PMC3623814  PMID: 23537064
2.  Therapeutic Difficulty in a Case of Supratentorial Primitive Neuroectodermal Tumor Diagnosed during Pregnancy 
We report a supratentorial primitive neuroectodermal tumor (sPNET) in 17-year-old primipara in the second trimester her pregnancy. Magnetic resonance imaging revealed a left frontoparietal mass with solid and cystic component. Gross-total resection was achieved via a left frontoparietal craniotomy. It was decided to suspend the radiotherapy and chemotherapy until the 30 weeks of gestation. But, a sudden uncal herniation was developed due to the reccurrence of the tumor and bleeding into the tumor at the 25 weeks of gestation and the patient died after urgent decompressive surgery. sPNETs is an extremely rare brain tumor in pregnancy and only two cases were reported in the literature to date. There is no universally agreed treatment protocol for sPNETs during pregnancy and a multidisciplinary approach is required in treatment. In the present study, the clinical, histopathological features and therapeutical difficulties of sPNETs diagnosed during pregnancy was discussed with the literature review.
doi:10.3340/jkns.2009.45.1.39
PMCID: PMC2640822  PMID: 19242570
Multidisciplinary treatment; Pregnancy; Supratentorial primitive neuroectodermal tumor
3.  Peripheral primitive neuroectodermal tumors arising in the pancreas: the first case report in Asia and a review of the 14 total reported cases in the world 
Objective
To discuss the diagnosis and treatment of peripheral primitive neuroectodermal tumors of the pancreas based on our case and all the cases in the world.
Methods
The first case of peripheral primitive neuroectodermal tumors of the pancreas in Asia was preliminarily reported by our group in 2006. The patient underwent three operations for the primary tumor and recurrences over 41 months prior to the patient’s death in November 2007. All 14 reported cases of pancreatic PNETs in the world were analyzed. The corresponding literatures on its diagnosis and treatment of were reviewed.
Results
A 13 year-old female patient was diagnosed with pancreatic PNETs by the clinical, microscopic, immunohistochemical features, and cytogenetic analysis after the resection of the tumor located in the uncinate process of the pancreas at PUMC Hospital. During the follow-up course, radiotherapy and chemotherapy were given after the first operation. Two additional operations were performed 10 months and 25 months after the first one, respectively, because of tumor recurrence. The patient died 41 months after the initial diagnosis with the recurrence and metastasis that were not suitable for a further surgery. Primitive neuroectodermal tumors of the pancreas are extremely rare. A review of the world’s literature on this tumor identified fourteen cases with a mean survival time of 12 months (ranging from 6 to 50 months). These patients often have no specific clinical symptoms, but most do present with abdominal pain and/or jaundice. The diagnosis is established by small round tumor cells seen on light microscopy, immunohistochemical features of positive P30/32MIC2 with at least two positive neuronal markers., and cytogenetic analysis showing characteristic translocation of t[11;22][q24;q12]. Since pancreatic PNETs are highly aggressive, early diagnosis, immediate surgical resection and re-resection if possible, early radiotherapy and chemotherapy and close follow-up are required.
Conclusions
Peripheral primitive neuroectodermal tumors can arise in pancreas. The diagnosis and treatment should be made as early as possible, aggressive surgeries for the primary and recurrences may help to improve the prognosis.
doi:10.3978/j.issn.2304-3881.2012.08.01
PMCID: PMC3924638  PMID: 24570916
Peripheral primitive neuroectodermal tumors; pancreatic tumor; small round cell tumors; Ewing’s sarcoma
4.  Peripheral primitive neuroectodermal tumor of the urinary bladder in an Arab woman with history of squamous cell carcinoma: a case report 
Introduction
Peripheral primitive neuroectodermal tumors of the urinary bladder are rare and tend to occur in an older age group than do their counterparts in bones and soft tissue.
Case presentation
We report a case of peripheral primitive neuroectodermal tumor of the urinary bladder in a 67-year-old woman of Arab origin. She had undergone transurethral resection followed by chemotherapy because of pulmonary metastasized muscle-invasive squamous cell carcinoma of the bladder in 2005. One year later, she first presented with a history of repeated hematuria in our institution. Performing cystoscopy any tumor could be detected. Control cystoscopy two months later showed a tumor mass of 3 cm in diameter at another location than described for the first tumor. After perforating by transurethral resection partial bladder resection had to be done. Tissue specimen after pathological analysis revealed a peripheral primitive neuroectodermal tumor with tumor cells reactive to cluster of differentiation 99, neuron-specific enolase and S100 protein and stained negative for other markers such as cytokeratins, epithelial membrane antigen, desmin, smooth muscle actin, chromogranin and leucocyte common antigen. Staging computerized tomography was especially free from any hint on organ metastasis, but the patient died due to a cardiac problem only a few months later.
Conclusions
To the best of our knowledge, we report the eighth case of bladder peripheral primitive neuroectodermal tumors in literature and the first concerning an Arab patient. It is also the first presentation of a peripheral primitive neuroectodermal tumor patient with a history of squamous cell carcinoma of the bladder. As in other cases, expression of single-chain-type 1 glycoprotein and neural markers was positive and the disease was at an advanced stage at the time of diagnosis.
doi:10.1186/1752-1947-3-6840
PMCID: PMC2726497  PMID: 19830128
5.  Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature 
Background:
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system tumor composed of primitive rhabdoid cells that may differentiate along neuroectodermal, mesenchymal and epithelial lineages. AT/RT in adults is rare but not completely exceptional. It generally arises from the posterior fossa of infants, but the broad majority of the reported AT/RT in adults manifested supratentorially with the exception of four cases that arose in the cerebellum and two that arose in the spinal cord.
Case Description:
A 44-year-old female complained of visual disturbance. We performed craniotomies twice and removed partially for each time, but any malignant cells were not found in the specimens. Finally, we determined histological diagnosis from the extended lesion. She died of respiratory failure 17 months after the initial treatment.
Conclusion:
AT/RT should be considered in the differential diagnosis of a sellar lesion in adult patients. However AT/RT is rare in adults, the appropriate immunohistochemical evaluation should be performed to diagnose this rare entity.
doi:10.4103/2152-7806.133105
PMCID: PMC4061576  PMID: 24949218
Adult; atypical teratoid/rhabdoid tumor; sellar turcica
6.  Chemotherapy-Induced Neuronal Maturation in Sinonasal Teratocarcinosarcoma—a Unique Observation 
Head and Neck Pathology  2008;3(1):31-36.
Sinonasal teratocarcinosarcoma (SNTCS) is a rare and highly malignant tumour with combined features of a teratoma and carcinosarcoma. We report the first case of a SNTCS in 23 year old male treated with neo-adjuvant chemotherapy followed by cranio-facial resection. The resection specimen displayed cellular maturation in the neuroectodermal component. The patient presented with a short history of nasal obstruction, epistaxis and headache. On imaging, a bone destroying lesion of left paranasal sinuses and nasal cavity was identified. The diagnosis of SNTCS could be offered only on the third biopsy which showed heterogeneous admixture of primitive neuroectodermal, epithelial and mesenchymal elements. An adequate sampling with high index of suspicion is needed to catch hold this rare tumor. Tumor was excised after 4 cycles of neo-adjuvant chemotherapy. On microscopic examination, it showed similar epithelial and mesenchymal components as the pretreatment biopsies. However, the primitive neuroectodermal component displayed extensive neuronal maturation. The undifferentiated neuroectodermal cells were completely absent in the post chemotherapy specimen. This case throws light on the morphologic evidence of chemotherapy induced maturation in the neuroectodermal component within SNTCS, an event hitherto not reported in the literature in case of SNTCS.
doi:10.1007/s12105-008-0094-x
PMCID: PMC2807528  PMID: 20596986
Teratocarcinosarcoma; Sinonasal tumours; Neuronal maturation; Neo-adjuvant chemotherapy
7.  Primary vaginal Ewing's sarcoma or primitive neuroectodermal tumor in a 17-year-old woman: a case report 
Introduction
Primary Ewing's sarcoma or primitive neuroectodermal tumor of the genital tract of women is uncommon. Rarer still is its occurrence in the vagina, with only five cases described so far. Out of these, only one case was confirmed using molecular analysis.
Case presentation
We present an extremely rare case of Ewing's sarcoma or primitive neuroectodermal tumor in a 17-year-old Indian girl. She presented with a vaginal mass that was initially diagnosed as a malignant round cell tumor. Immunohistochemistry showed diffuse positivity for vimentin, membranous positivity for MIC2, and positivity for BCL2 and FLI-1. On the other hand, she was negative for cytokeratin, epithelial membrane antigen, desmin, Myo D-1, myogenin and smooth muscle actin. A diagnosis of primitive neuroectodermal tumor was thus offered. Furthermore, a molecular analysis of our patient using reverse transcription-polymerase chain reaction technique showed positivity for t(11; 22) (q24; q12) (EWSR1-FLI1), thus confirming the diagnosis of a Ewing's sarcoma/primitive neuroectodermal tumor. Our patient was offered chemotherapy on Institutional protocol EFT 2001.
Conclusion
This is a rare case of primary vaginal Ewing's sarcoma or primitive neuroectodermal tumor, which was confirmed with molecular analysis, in the youngest patient known so far. This study reinforces the value of integrating morphological features with membranous MIC2 positivity, along with application of molecular techniques in objective identification of an Ewing's sarcoma or primitive neuroectodermal tumor at uncommon sites.
doi:10.1186/1752-1947-4-88
PMCID: PMC2848680  PMID: 20233457
8.  The role of immunohistochemistry in medullomyoblastoma – a case series highlighting divergent differentiation 
Diagnostic Pathology  2008;3:18.
Aims
To analyse the histo-morphology of cases of medullomyoblastoma and identifying its divergent differentiation.
Methods
A retrospective review of all cases reported as medulloblastoma between the period of Jan 2000 to Dec 2006 was carried out on Hematoxylin and eosin (H & E) stained slides. The cases were screened on light microscopy for primitive neuroectodermal component of a medulloblastoma accompanied by areas of "myoid" differentiation, identified on the basis of presence of strap cells (indicating a clear skeletal muscle differentiation) and/or large anaplastic cells with vescicular nuclei and moderate to abundant amount of eosinophilic cytoplasm. All these cases were subjected to a panel of immunohistochemical stains, including Desmin, GFAP, NFP, HMB45, SMA, S100, CK and EMA. Ultrastructral analysis was done on tissue obtained from paraffin blocks in 2 cases.
Results
Male predominance (M:F = 5:1) was noted with an incidence of five percent of all cases of medulloblastoma (6 out of 120 cases) over a period of 6 years. Primitive neuroectodermal areas were accompanied with areas of "myoid" differentiation, 5 cases showing strap cells. Two cases with epithelial and cartilaginous differentiation were seen. Three cases showed focal melanocytic differentiation, identified only on HMB45 immunostaining. Four cases showed glial differentiation. Neuronal differentiation again was very focally seen in two cases, of which one was identified only by NFP immunostain. Seventh case is included in the study, however it is not considered to calculate incidence as it occurred beyond the period of 6 years of records search.
Conclusion
Medullomyoblastoma is a rare childhood tumor of cerebellum. Majority of cases reveal divergent differentiation, which are identified with the help of panel of immunostains indicating multi-potential nature of primitive neuroectodermal cells.
doi:10.1186/1746-1596-3-18
PMCID: PMC2391140  PMID: 18439235
9.  High resolution array-based comparative genomic hybridisation of medulloblastomas and supra-tentorial primitive neuroectodermal tumours 
Medulloblastomas and supratentorial primitive neuroectodermal tumours are aggressive childhood tumours. We report our findings using array comparative genomic hybridisation (CGH) on a whole-genome BAC/PAC/cosmid array with a median clone separation of 0.97Mb to study 34 medulloblastomas and 7 supratentorial primitive neuroectodermal tumours. Array CGH allowed identification and mapping of numerous novel small regions of copy number change to genomic sequence, in addition to the large regions already known from previous studies. Novel amplifications were identified, some encompassing oncogenes, MYCL1, PDGFRA, KIT and MYB, not previously reported to show amplification in these tumours. In addition, one supratentorial primitive neuroectodermal tumour had lost both copies of the tumour suppressor genes CDKN2A & CDKN2B. Ten medulloblastomas had findings suggestive of isochromosome 17q. In contrast to previous reports using conventional CGH, array CGH identified three distinct breakpoints in these cases: Ch 17: 17940393-19251679 (17p11.2, n=6), Ch 17: 20111990-23308272 (17p11.2-17q11.2, n=4) and Ch 17: 38425359-39091575 (17q21.31, n=1). Significant differences were found in the patterns of copy number change between medulloblastomas and supratentorial primitive neuroectodermal tumours, providing further evidence that these tumours are genetically distinct despite their morphological and behavioural similarities.
PMCID: PMC2816352  PMID: 16783165
Medulloblastoma; supratentorial primitive neuroectodermal tumour; array-CGH; genomic copy number
10.  Peripheral primitive neuroectodermal tumor of the dura in a 51-year-old woman following intensive treatment for breast cancer 
Patient: Female, 51
Final Diagnosis: Ewing sarcoma
Symptoms: Visual disturbances
Medication: —
Clinical Procedure: —
Specialty: Oncology
Objective:
Rare disease
Background:
Primitive neuroectodermal tumor/Ewing sarcoma (PNET/EWS) is a round blue cell sarcoma that shows varying degrees of neuroectodermal differentiation. PNET/EWS as a primary intracranial tumor is extremely uncommon.
Case Report:
We report a unique case of peripheral PNET presenting as an intracranial mass in an adult following chemotherapy and radiotherapy for a solid tumor. A 51-year-old woman with previously treated left breast cancer was evaluated for a newly developed brain mass. She underwent craniotomy with resection. Surgical pathology was consistent with a peripheral PNET/EWS with Ewing sarcoma gene translocation. She was treated appropriately with vincristine, cyclophosphamide, and doxorubicin (later dactinomycin) alternating with ifosfamide and etoposide.
Conclusions:
Although development of PNET/EWS presenting along the CNS is exceedingly rare in adults, establishing the proper diagnosis of this “small blue cell tumor” is critical. The further distinction between central PNET and peripheral PNET can greatly impact both prognosis and treatment. Our case also highlights the importance of considering the impact of prior intensive therapies, including radiation and chemotherapy, on predisposing to future PNET/EWS.
doi:10.12659/AJCR.890656
PMCID: PMC4102603  PMID: 25045413
Central Nervous System; Neuroectodermal Tumors, Primitive, Peripheral; Sarcoma, Ewing
11.  Orbital Infantile Myofibroma: a Case Report and Clinicopathologic Review of 24 Cases from the Literature 
Head and Neck Pathology  2011;5(3):205-215.
Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960–2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white–grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR-Ag, and CD45RB. The principle histologic differential diagnosis includes juvenile hyaline fibromatosis, fibrous hamartoma of infancy, fibromatosis coli, leiomyoma, infantile hemangiopericytoma, infantile fibrosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and lymphoma. All patients were managed with surgery. Recurrences developed in two patients at 4 and 6 months, respectively. Follow-up data was available on all but two patients (n = 22). These patients were either alive without evidence of disease (n = 18), alive but with disease (n = 3), or had died unrelated to this disease (i.e., neuroblastoma, n = 1). Orbital infantile myofibroma is a rare tumor, presenting in infancy as an enlarging mass of the orbit, with characteristic histomorphologic and immunophenotypic features. Orbital disease is usually isolated rather than part of systemic disease, and shows an excellent long-term prognosis, making appropriate separation from other conditions important.
doi:10.1007/s12105-011-0260-4
PMCID: PMC3173528  PMID: 21512784
Infantile myofibroma; Myofibromatosis; Juvenile fibromatosis; Orbit; Soft tissue; Infancy; Pediatrics; Immunohistochemistry; Prognosis; Survival; Differential diagnosis; Fibromatosis
12.  Ewing’s Sarcoma: An Uncommon Breast Tumor 
Clinics and Practice  2014;4(2):659.
Ewing’s sarcoma/primitive neuroectodermal tumors (EWS/PNET) are rare malignant and aggressive tumors, usually seen in the trunk and lower limbs of children and young adults. They are uncommon in the breast. We report a case of a 43-year-old woman who developed a painless breast mass. An initial core needle biopsy concluded to a fibrocystic dystrophy contrasting with a rapidly growing mass; thus a large lumpectomy was done. Diagnosis of primary PNET of the breast was established, based on both histopathological examination and immunohistochemical findings. Surgical margins were positive, therefore, left modified radical mastectomy with axillary lymph nodes dissection was performed. The patient was given 6 cycles of adjuvant chemotherapy containing cyclophosphamide, adriamycin and vincristine. Twenty months later, she is in life without recurrence or metastasis. EWS/PNET may impose a diagnostic challenge. Indeed, mammography and ultrasonography features are non specific. The histopathological pattern is variable depending on the degree of neuroectodermal differentiation. Immuno-phenotyping is necessary and genetic study is the only confirmatory tool of diagnosis showing a characteristic cytogenetic anomaly; t (11; 22) translocation.
doi:10.4081/cp.2014.659
PMCID: PMC4202187  PMID: 25332765
Primitive neuroectodermal tumor; Ewing’s sarcoma; breast
13.  Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature 
Background:
The occurrence of primitive neuroectodermal tumors (PNET) in patients with neurofibromatosis type 1 (NF1) has only been reported in two other cases in English-Language literature. Owing to the rarity of intraspinal PNET and the extremely high gene mutation variability in NF1, there is currently no conclusive evidence to suggest that PNET is associated with NF1. Here, we report a case of intradural PNET in a patient with NF1.
Case Description:
A 27-year-old male underwent a C1-C3 laminectomy for resection of an intramedullary mass. Histopathology and immunohistopathology analysis was performed. Microscopic examination and immunohistochemical staining indicated the mass was a primitive neuroectodermal tumor. Within 1 month after tumor resection, the patient developed leptomeningeal carcinomatosis. The patient was not a candidate for radiation therapy but underwent palliative systemic chemotherapy. He subsequently developed neutropenia and died 3 months after tumor resection.
Conclusion:
To our knowledge, this is the first reported intraspinal PNET associated with NF1. Genetic analysis of CNS PNETs suggests a possible correlation, but larger case series are needed to support this theory.
doi:10.4103/2152-7806.86835
PMCID: PMC3228383  PMID: 22140640
Intramedullary primitive neuroectodermal tumors; neurofibromatosis type 1; primitive neuroectodermal tumor
14.  Uterine primitive neuroectodermal tumor with adenosarcoma: a case report 
Introduction
Primitive neuroectodermal tumor of the uterus is extremely rare. They occur as either pure primitive neuroectodermal tumors or admixed with neoplasms of mullerian origin.
Case presentation
A case of uterine primitive neuroectodermal tumor with adenosarcoma in a 50-year-old Asian Indian woman is presented. Histologically, the neoplasm displayed perivascular pseudorosettes and occasional Homer-Wright rosettes. A strong positivity for neuronspecific enolase and synaptophysin was noted, while chromogranin and CD99 were negative. Merging imperceptibly with the neuroectodermal components were the areas of adenosarcoma.
Conclusion
To the best of our knowledge, this report represents the second case of a uterine primitive neuroectodermal tumor with an admixed adenosarcoma.
doi:10.1186/1752-1947-4-195
PMCID: PMC2913979  PMID: 20584309
15.  Primitive neuroectodermal tumor of the cervix: a case report 
Introduction
Peripheral primitive neuroectodermal tumor of the cervix uteri is extremely rare. Between 1987 and 2010, there were only nine cases reported in the English literature, with considerably different management policies.
Case presentation
A 45-year-old Iranian woman presented to our facility with a primitive neuroectodermal tumor of the cervix uteri. Her clinical stage IB2 tumor was treated successfully with chemotherapy. Our patient underwent radical hysterectomy. There was no trace of the tumor after four years of follow-up.
Conclusions
According to current knowledge, primitive neuroectodermal tumors belong to the Ewing's sarcoma family, and the improvement of treatment outcome in our patient was due to dose-intensive neoadjuvant chemotherapy, surgery and consolidation chemotherapy in accordance with the protocol for bony Ewing's sarcoma.
doi:10.1186/1752-1947-5-489
PMCID: PMC3197535  PMID: 21962148
16.  Primitive neuroectodermal tumor of the maxillary sinus in an elderly male: A case report and literature review 
Imaging Science in Dentistry  2014;44(4):307-314.
Primitive neuroectodermal tumor (PNET), which belongs to the Ewing's sarcoma (ES) family of tumors, is mainly seen in children and young adults. PNETs are extremely rare in the maxilla. Here, we report a case of PNET of the left maxillary sinus in an elderly male. Magnetic resonance imaging (MRI) revealed a slightly enhanced solid mass occupying the left maxillary sinus and infiltrating into the retroantral space. A partial maxillectomy was performed. Despite postoperative chemotherapy, follow-up computed tomography (CT) and MRI revealed a nodal metastasis in the submandibular space. Neck dissection was performed. However, the patient died 10 months after the second surgery because of distant metastasis to the liver. MRI and CT were particularly useful in detecting the extent of the tumor, recurrence, and metastasis. Further, a literature review of the previously reported PNET cases of the maxilla was carried out. In this paper, we also discuss the current approach for the diagnosis and management of these tumors.
doi:10.5624/isd.2014.44.4.307
PMCID: PMC4245473  PMID: 25473639
Neuroectodermal Tumors, Primitive; Maxillary Sinus; Magnetic Resonance Imaging
17.  Primitive Neuroectodermal Tumor Presenting with Diffuse Leptomeningeal Involvement in a 55-Year-Old Woman: A Case Report and Brief Summary of Current Diagnostic Tests and Treatment 
Case Reports in Oncology  2014;7(2):471-477.
Primitive neuroectodermal tumors (PNETs) are typically present as masses in children and adolescents, but rarely in adults. Diagnoses, management strategies, and prognostication factors are not well established in adult cases of PNETs. We describe the case of a central nervous system PNET diagnosed in a 55-year-old woman presenting with a sudden onset of symptoms consisting of increased intracranial pressure and findings of diffuse leptomeningeal enhancement and a small medullary lesion seen on MRI. Amongst the small database of PNETs diagnosed in adults, our case report stands out as one of few cases describing a primarily leptomeningeal PNET diagnosed on biopsy. We also review the literature on PNETs presenting with diffuse leptomeningeal disease and the treatment of PNETs in the adult population.
doi:10.1159/000365414
PMCID: PMC4154191  PMID: 25202261
Primitive neuroectodermal tumor; Leptomeningeal involvement; Adult primitive neuroectodermal tumor
18.  Multifocal and Multicentric Glioblastoma with Leptomeningeal Gliomatosis: A Case Report and Review of the Literature 
Case Reports in Medicine  2013;2013:132679.
Glioblastoma (GBM) rarely presents as an infratentorial tumor in adults. The authors present a case of concomitant supratentorial and infratentorial GBM in an adult. A 72-year-old man presented with headache, nausea, vomiting, and lightheadedness. Initial MR images revealed enhancing masses in the right cerebellum and right posterior periventricular region. The patient underwent a suboccipital craniotomy and resection of the cerebellar lesion. Final histopathology was consistent with glioblastoma. The patient went on to receive standard radiation treatment for GBM with concurrent and adjuvant temozolomide. However, the patient experienced clinical deterioration within a few days after starting radiotherapy. He and his family decided to forego treatment and pursue palliative care. The patient expired three months after the initial diagnosis. Autopsy findings supported the diagnosis of GBM with leptomeningeal gliomatosis and involvement of the cerebrum, cerebellum, and spinal cord. The authors review the literature and propose that the pathogenesis of multiple and multicentric GBM may involve neural stem cells within the subventricular zone or could result from tumor dissemination along established CNS routes, such as white matter tracts and CSF pathways.
doi:10.1155/2013/132679
PMCID: PMC3870073  PMID: 24381594
19.  Renal primitive neuroectodermal tumour: Case series and brief review 
Renal primitive neuroectodermal tumor is a rare malignancy. These tumours rarely present with caval involvement. We report 2 cases of primitive neuroectodermal tumours (PNETs) with inferior vena cava involvement. The initial presentation and outcomes differed significantly. The diagnosis was confirmed using histologic and pathologic analysis. We present a brief literature review and an outline of typical clinical and pathologic features of renal PNETs.
doi:10.5489/cuaj.1770
PMCID: PMC4001651  PMID: 24839490
20.  Surgical Treatment of Brain Tumors in Infants Less than 6 months of Age and Literature Review 
World neurosurgery  2011;78(1-2):137-144.
Object
Brain tumors are rare in infants under 6-months of age. These tumors can be challenging to treat surgically. We analyzed a modern series of patients treated by a multidisciplinary team at a tertiary care center and performed a literature review of this unique population.
Methods
Retrospective clinical data was collected for patients surgically treated for intracranial mass lesions at The Children’s Hospital of Philadelphia from 1998 to 2007. Dermoid cysts and other skull-based lesions were excluded from the analysis.
Results
Sixteen patients under 6-months of age underwent surgery for primary intracranial mass lesions. The median age of the patients at surgery was 5.2 months (range 1.4 to 6 months of age). Children most often presented with a bulging fontanelle, hydrocephalus, or macrocephaly (7 patients). Vomiting was seen in 5 patients, cranial nerve palsies in 1 patient, and seizures in 3 patients.
All patients had tumor resections and post-operatively were monitored in the intensive care unit. The final pathology consisted of atypical teratoid/rhabdoid tumor (3 cases), primitive neuroectodermal tumor/medulloblastoma (3 cases), choroid plexus papilloma (2 cases), astrocytoma (2 cases), ganglioglioma (2 cases), desmoplastic infantile ganglioglioma (2), glioblastoma multiforme (1), and choroid plexus carcinoma (1).
Two intra-operative deaths occurred. Of the surviving 14, a gross total resection was achieved in 4. Adjuvant therapy was determined by a multidisciplinary team composed of neuro-oncology, neurosurgery, and radiation oncology. Seven patients were treated with chemotherapy, 1 patient had proton beam therapy. Five-year overall survival was 45%. The eight surviving patients had neurological sequelae, and developmental outcome was variable.
Conclusions
Brain tumors are uncommon in children under 6-months of age. Patients present with a variety of tumor pathologies. Children who survive have neurological sequelae. More studies are necessary to understand the impact that different treatment options, tumor pathology, and tumor location have on neurological outcome.
doi:10.1016/j.wneu.2011.09.012
PMCID: PMC3292637  PMID: 22120270
brain tumor; surgery; neonates; congenital
21.  Primitive neuroectodermal tumor of the kidney: case report and review of literature 
Background
Renal primitive neuroectodermal tumor (rPNET) as a member of Ewing’s sarcoma family is extremely rare and usually occurs in children and young adults. Most literature about rPNET was isolated case reports.
Case presentation
We reported a case of 45-year-old man with the complaint of right flank pain. Computerized tomography (CT) scan demonstrated a large substantive tumor involving the lower pole of the right kidney. Then the patient underwent radical nephrectomy. Pathologic characteristics and immunohistochemical analysis confirmed the diagnosis of rPNET. Additionally, the patient received three cycles of chemotherapy, and was still alive without metastasis at 15-months follow-up.
Conclusion
rPNET is rare and presents aggressive clinical behavior and worse prognosis. We expect that further awareness and study of this rare tumor can be had by presenting our case.
doi:10.1186/1477-7819-10-279
PMCID: PMC3544644  PMID: 23270507
Primitive neuroectodermal tumor; Kidney carcinoma; Ewing’s sarcoma
22.  Peripheral primitive neuroectodermal tumor of the cervical spine 
Background:
Primitive neuroectodermal tumor (PNET) is a malignant neoplasm that generally arises from bone and soft tissues, with predilection for young adults. This neural crest origin tumors share biologic and histologic features with Ewing's sarcoma (ES).
Case Description:
We present a case of a 22-year-old woman with history of severe progressive neck pain, without radiation, associated with paresthesia in the right arm, and palpable right posterior cervical mass. Neurological examination showed increased reflexes in all four limbs, bilateral Hoffman's sign, right Babinski's sign, and right hemi-hypoesthesia. Neuroimaging revealed a right posterior cervical lesion with heterogeneous contrast enhancement extending to the neural foramina of the atlas and axis. Patient underwent microsurgical removal of the lesion, and histopathological and immunohistochemical analysis confirmed the diagnosis of peripheral primitive PNET (pPNET). The patient had adjuvant treatment with radiotherapy and chemotherapy. After twelve months, neuroimaging showed no signs of tumor regrowth and the patient had no neurological deficits. However, three months later, the patient developed hydrocephalus and cerebrospinal fluid (CSF) was positive for neoplastic cells. No other treatment was administered and the patient died.
Conclusion:
pPNET is a rare malignant tumor with poor prognosis, although promising results with multimodal treatment-surgery, radiotherapy, and chemotherapy. Diagnosis requires immunohistochemical analysis, with identification of neuronal differentiation markers.
doi:10.4103/2152-7806.99938
PMCID: PMC3463148  PMID: 23050205
Cervical spine; Ewing's sarcoma; primitive neuroectodermal tumor
23.  Cortical ependymoma: an unusual epileptogenic lesion 
Journal of Neurosurgery  2011;114(4):1187-1194.
Object
Supratentorial cortical ependymomas (CE) are rare, with 7 cases reported. The lesions, typically occurring in the superficial cortex in young adults and associated with a history of seizures, are not fully characterized. Furthermore, their relationship with the recently described angiocentric glioma (AG) is still being debated. This study was undertaken to summarize the authors’ experience with CEs.
Methods
Between 1997 and 2009, 202 cases of ependymoma were surgically treated at the Mayo Clinic, 49 of which were supratentorial. Among these, 9 CE cases were retrospectively identified. Clinical, imaging, and pathological features of each case were reviewed.
Results
Tumors arose from the frontal (5 cases), parietal (3), and occipital (1) lobes. No tumor occurred in the temporal lobe, despite its reported association with seizures. The mean age at presentation was 27 ± 19 years (± SD) and age at resection was 36 ± 16 years. The mean size of the lesion was 16 ± 14 cm3. Seizures were the presenting symptom in 78%. Cross-sectional imaging in 8 cases was characterized by a heterogeneous mass with multiple cystlike areas and enhancement of the soft-tissue component. Gross-total resection was achieved in 8 of 9 tumors. Pathologically, 6 were low-grade (WHO Grade II) and 3 were anaplastic (WHO Grade III) ependymomas. All tumors exhibited the focal presence of perivascular pseudorosettes, but only 1 (11 %) exhibited the focal presence of a true rosette. A bipolar spindle cell component resembling AG was present in 3 (33%) and “Schwannian-like” nodules in 2 (22%). Subpial aggregation and peripheral infiltration were present in 4 cases (44%}. With a mean postsurgery follow-up of 62 ± 38 months, only 2 lesions recurred locally after imaging-confirmed gross-total resection, both being Grade III. In 5 (71 %) of 7 patients presenting with seizures an Engel Class I outcome was achieved.
Conclusions
Cortical ependymomas represent a rare type of ependymoma occurring superficially in the cortex. Morphologically, these tumors are protean, varying from classic to epithelioid, clear cell, and tanycytic. Some also exhibited features typical of AG. Most tumors were low grade and cured with resection. Anaplastic tumors occur and may recur locally despite provision of radiation therapy. Cortical ependymomas frequently, but not always, present with seizures, but despite their high association with epilepsy, none occurred in the temporal lobe in any of the authors’ 9 patients. Overall, CEs appear to have a relatively favorable prognosis compared with other supratentorial ependymomas.
doi:10.3171/2010.12.JNS10846
PMCID: PMC3271434  PMID: 21235315
ependymoma; epilepsy; cortical ependymoma; outcome
24.  Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Kidney: Two Unusual Presentations of a Rare Tumor 
Case Reports in Medicine  2012;2012:190581.
Only few cases of primary renal Ewing's sarcoma have been reported in the literature to date. We present here two cases of renal ES/PNET with an uncanny presentation. The first case was discovered after the patient presented clinically with irradiating flank pain, mimicking the pain related with kidney stones. The second case had clinical presentation of pulmonary thromboembolism after the patient was involved in an automobilist accident. The tumors were mainly composed of small blue cells which by immunohistochemical were positive for neural markers, and FISH revealed the translocation 22q12 for the EWSR1 gene. The diagnosis of renal primitive neuroectodermal tumor/EWING tumor is very rare and usually involves several different diagnostic techniques. The differential diagnosis is usually broad with frequent overlapping features between the entities. The cases presented in this paper illustrated the difficulties with which routine anatomical pathologist is faced when dealing with rare renal poorly differentiated neoplasm in adults.
doi:10.1155/2012/190581
PMCID: PMC3270556  PMID: 22312368
25.  Brain tumor in the first year of life: a single institute study. 
Brain tumors in infants present special diagnostic and therapeutic challenges. To figure out the clinical features, pathological classification of the tumors and the treatment outcome of infantile brain tumors, 458 children (age<16) with brain tumors were reviewed retrospectively. Among them 21 cases (4.6%) were diagnosed during the first 12 months of life. Two tumors were definitely of congenital origin. The majority of infants with brain tumors presented with increased intracranial pressure. Fourteen tumors were located at the supratentorial area. Sixteen cases had neuroepithelial tumors; astrocytoma (optic pathway), supratentorial primitive neuroectodermal tumor (PNET) and medulloblastoma were found in three cases each. There were two treatment-related mortalities. Compared with the outcomes in older children, the treatment outcome was poorer in medulloblastoma and the optic pathway glioma which showed a higher growth potential. Because of the limited application of postoperative adjuvant therapy, radical surgical removal played a more important role in this age group. The prognosis of patients in whom the tumors could not be totally removed, largely depended on the pathological malignancy of the tumors. Though the treatment outcome was not always dismal, immaturity of the brain, higher growth potential, perioperative risks, limitations in adjuvant therapy, and pessimistic attitude on the part of parents made management more challenging.
PMCID: PMC3054340  PMID: 9539322

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