Intracranial Ewing sarcoma/'peripheral' primitive neuroectodermal tumor of dural origin with molecular genetic confirmation.

摘要: 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 MIC2 antigen specific translocations involving gene on chromosome 22q12 [the most being t(11;22)(q24;q12)]. ES/pPNET intracranial origin extraordinary. We report case 6-year-old boy with large left frontal region mass adhered dura was extracerebral at surgery. Histologic study revealed high-grade, undifferentiated-appearing neoplasm type negative immunostudy for glial fibrillary acidic protein, synaptophysin, desmin, leukocyte antigen, smooth muscle actin epithelial membrane but positive vimentin neuron-specific enolase diffusely labeled antibody O13 (which recognizes product). RNA-based polymerase chain reaction assay confirmed diagnosis demonstrating fusion transcripts indicative t(11;22) translocation. Bone scan, computerized tomography chest marrow examination no systemic tumor. The limited observations published date suggest primary likely present childhood as circumscribed, contrast-enhancing dural-based mass. It must be distinguished from variety neoplasms, particularly PNETs central neuroepithelial origin.