Monosomy 22 in rhabdoid or atypical tumors of the brain

J Neurosurg. 1990 Nov;73(5):710-4. doi: 10.3171/jns.1990.73.5.0710.


Cytogenetic studies of three rare childhood brain tumors were performed. Two children presented with pure rhabdoid tumors. The third child had a tumor composed of a mixture of rhabdoid elements with neuroepithelial, epithelial, and mesenchymal tissue - an atypical teratoid tumor. All three tumors demonstrated monosomy 22 as the only cytogenetic abnormality. The cytogenetic findings suggest that loss of a gene or genes on chromosome 22 may be involved in the initiation or progression of these malignant tumors. Further studies on additional fresh tumor specimens are warranted; however, it is possible that cytogenetic studies may be used as an additional means of diagnosing rhabdoid or atypical teratoid tumors of the brain.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Immunoenzyme Techniques
  • Infant
  • Karyotyping
  • Male
  • Monosomy*
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Teratoma / genetics*
  • Teratoma / pathology