title: Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review.
abstract: The peripheral primitive neuroectodermal tumor/Ewing's sarcoma family tumor (pPNET/ESFT) group includes small round cell tumors of the bone, soft tissue, and nerve with morphological attributes of the germinal neuroepithelium. Peripheral PNETs/ESFTs also occur within the craniospinal vault, a region including the central nervous system, the meninges, and the cranial and spinal nerve roots. Gene rearrangements between the EWS gene on chromosome 22q12 and members of the ETS gene family are common in and specific to pPNETs/ESFTs. Another defining characteristic of pPNETs/ESFTs is their membranous expression of the MIC2 gene product. We describe 2 cases of pPNETs within the craniospinal vault. An intradural tumor arising from the nerve roots of the cauda equina was discovered in a 32-year-old man presenting with radiculopathic back pain and lower-extremity weakness. An intracranial pPNET that mimicked a meningioma was found in a 21-year-old man presenting with headache and visual disturbances. MIC2 gene product expression and EWS/ETS gene rearrangement were detected in both case patients. The literature with regard to pPNETs/ESFTs arising within the craniospinal vault is reviewed.
authors.affiliation: Department of Pathology, Stanford University Medical Center, Stanford, CA 94035, USA.
authors.forename: Bret C
authors.initials: BC
authors.lastname: Mobley
authors.forename: Diane
authors.initials: D
authors.lastname: Roulston
authors.forename: Gaurang V
authors.initials: GV
authors.lastname: Shah
authors.forename: Karen E
authors.initials: KE
authors.lastname: Bijwaard
authors.forename: Paul E
authors.initials: PE
authors.lastname: McKeever
mesh_terms: D000071443:12E7 Antigen; D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D001416:Back Pain / Q000209:etiology; D015139:Blotting, Southern; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002420:Cauda Equina / Q000473:pathology*; D015815:Cell Adhesion Molecules / Q000378:metabolism; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003937:Diagnosis, Differential; D006261:Headache / Q000209:etiology; D006801:Humans; D008297:Male; D008579:Meningioma / Q000473:pathology; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D010524:Peripheral Nervous System Neoplasms / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012512:Sarcoma, Ewing / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology
chemical_list: D000071443:12E7 Antigen; D015703:Antigens, CD; C061828:CD99 protein, human; D015815:Cell Adhesion Molecules; C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS