Intracranial Ewing sarcoma/'peripheral' primitive neuroectodermal tumor of dural origin with molecular genetic confirmation Journal Article
| Authors: | Antunes, N. L.; Lellouch-Tubiana, A.; Kalifa, C.; Delattre, O.; Pierre-Kahn, A.; Rosenblum, M. K. |
| Article Title: | Intracranial Ewing sarcoma/'peripheral' primitive neuroectodermal tumor of dural origin with molecular genetic confirmation |
| Abstract: | Ewing sarcoma/'peripheral' primitive neuroectodermal tumor (ES/pPNET) is the designation given to a family of small cell neoplasms that typically arise in bone or soft tissue and are unified by their common expression of the MIC2 antigen and specific translocations involving a gene on chromosome 22q12 [the most common being t(11;22)(q24;q12)]. ES/pPNET of intracranial origin is extraordinary. We report the case of a 6-year-old boy with a large left frontal region mass that adhered to dura and was extracerebral at surgery. Histologic study revealed a high-grade, undifferentiated-appearing neoplasm of small cell type that was negative on immunostudy for glial fibrillary acidic protein, synaptophysin, desmin, leukocyte common antigen, smooth muscle actin and epithelial membrane antigen, but positive for vimentin and neuron-specific enolase and diffusely labeled by antibody O13 (which recognizes the MIC2 gene product). RNA-based polymerase chain reaction assay confirmed the diagnosis of ES/pPNET by demonstrating fusion transcripts indicative of t(11;22) translocation. Bone scan, computerized tomography of the chest and bone marrow examination revealed no systemic tumor. The limited observations published to date suggest that primary intracranial ES/pPNET is most likely to present in childhood as a circumscribed, contrast-enhancing and dural-based extracerebral mass. It must be distinguished from a variety of small cell neoplasms, particularly PNETs of central neuroepithelial origin. |
| Keywords: | child; gene translocation; case report; brain tumor; brain neoplasms; cancer grading; polymerase chain reaction; antigen expression; actin; computer assisted tomography; glial fibrillary acidic protein; genetic association; histology; ewing sarcoma; soft tissue; fusion gene; chromosome translocation; frontal lobe; sarcoma, ewing's; neuroectoderm tumor; leukocyte antigen; dura mater; bone scintiscanning; bone marrow examination; rna transcription; desmin; frontal cortex; primitive neuroectodermal tumor; epithelial membrane antigen; synaptophysin; vimentin; neuroectodermal tumors, primitive, peripheral; enolase; humans; human; male; article |
| Journal Title: | Journal of Neuro-Oncology |
| Volume: | 51 |
| Issue: | 1 |
| ISSN: | 0167-594X |
| Publisher: | Springer |
| Date Published: | 2001-01-01 |
| Start Page: | 51 |
| End Page: | 56 |
| Language: | English |
| DOI: | 10.1023/a:1006432919281 |
| PUBMED: | 11349881 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Export Date: 21 May 2015 -- Source: Scopus |
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