title: Desmoplastic small round cell tumor of the central nervous system: report of two cases and review of the literature.
abstract: Desmoplastic small round cell tumor (DSRCT) is a malignant tumor often involving the abdominal and/or pelvic peritoneum. Only one fully documented example has arisen in the central nervous system (CNS). Herein, we describe two additional examples, fulfilling the morphologic, immunohistochemical, and molecular criteria (EWS/WT1 translocation) of DSRCT. Both arose in the cerebellopontine angle (CPA) and underwent spinal dissemination. Patient 1, a 37-year-old male, underwent a subtotal resection, and 2 years later died of recurrent disease with spinal dissemination. Patient 2, a 39-year-old man, presented with cerebellar and CPA lesions as well as spinal leptomeningeal deposits. After 27 months of adjuvant therapy, he is alive with progressive disease. In conclusion, CNS DSRCT follows a similar aggressive course as do peritoneal examples. Although rare, DSRCT warrants consideration in the differential diagnosis of "malignant small blue cell tumors" of the CNS.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905, USA.
authors.forename: Luciano
authors.initials: L
authors.lastname: Neder
authors.forename: Bernd W
authors.initials: BW
authors.lastname: Scheithauer
authors.forename: Keki E
authors.initials: KE
authors.lastname: Turel
authors.forename: Mark A
authors.initials: MA
authors.lastname: Arnesen
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.forename: Long
authors.initials: L
authors.lastname: Jin
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Moynihan
authors.forename: Caterina
authors.initials: C
authors.lastname: Giannini
authors.forename: Fredric B
authors.initials: FB
authors.lastname: Meyer
mesh_terms: D000328:Adult; D018288:Carcinoma, Small Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002528:Cerebellar Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002530:Cerebellopontine Angle / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C106032:EWS1-WT1 fusion protein, human; D015514:Oncogene Proteins, Fusion