Cytokeratin-positive meningeal peripheral PNET/Ewing's sarcoma of the cervical spinal cord: diagnostic value of genetic analysis.
Peripheral primitive neuroectodermal tumor (PNET)/Ewing's sarcoma (ES) of the central nervous system is extremely rare and should be differentiated from central PNET and other small blue round cell tumors. We describe a case of a meningeal peripheral PNET/ES of the spinal cord in an 11-year-old boy. Immunohistochemically, the small blue round cell tumor showed expression of epithelial markers and of CD99, thus posing an important differential diagnostic problem with a poorly differentiated synovial sarcoma. Fluorescence in situ hybridization revealed rearrangement of the EWS gene, as seen in peripheral PNET/ES. Peripheral PNET/ES does occur in the central nervous system, but its diagnosis can be extremely difficult on morphologic and immunohistochemical grounds alone. Genetic analysis plays a key role in its distinction from other small blue round cell tumors.
Woestenborghs
Heidi
H
Department of Pathology, University Hospital, Catholic University of Leuven, Leuven, Belgium.
Debiec-Rychter
Maria
M
Renard
Marleen
M
Demaerel
Philippe
P
Van Calenbergh
Frank
F
Van Gool
Stefaan
S
Sciot
Raf
R
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage; D014408:Biomarkers, Tumor / Q000378:metabolism; D001859:Bone Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007633:Keratins / Q000378:metabolism*; D007796:Laminectomy; D008297:Male; D008578:Meninges / Q000473:pathology*; D018396:Mucin-1 / Q000378:metabolism; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D012512:Sarcoma, Ewing / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D013584:Sarcoma, Synovial / Q000175:diagnosis; D032681:Spectral Karyotyping; D013116:Spinal Cord / Q000601:surgery; D013120:Spinal Cord Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D014746:Vimentin / Q000378:metabolism
D014408:Biomarkers, Tumor; D018396:Mucin-1; D014746:Vimentin; D007633:Keratins