Desmoplastic small round cell tumor of the central nervous system: report of two cases and review of the literature

Virchows Arch. 2009 Apr;454(4):431-9. doi: 10.1007/s00428-009-0750-x. Epub 2009 Mar 5.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Small Cell / genetics
  • Carcinoma, Small Cell / metabolism
  • Carcinoma, Small Cell / pathology*
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / metabolism
  • Cerebellar Neoplasms / pathology*
  • Cerebellopontine Angle / metabolism
  • Cerebellopontine Angle / pathology*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Magnetic Resonance Imaging
  • Male
  • Oncogene Proteins, Fusion / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • EWS1-WT1 fusion protein, human
  • Oncogene Proteins, Fusion