Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system: Associated tumors with different histologic, cytogenetic, and molecular findings

D. W. Fort, V. S. Tonk, G. E. Tomlinson, C. F. Timmons, N. R. Schneider

Research output: Contribution to journalArticle

33 Scopus citations


Rhabdoid tumor of the kidney (RTK) is associated with tumors of the central nervous system (CNS) in approximately 15% of cases. We describe the clinical features, histologic and cytogenetic findings, and molecular analysis of renal and CNS tumors from the same patient. The histology of the renal tumor was consistent with rhabdoid tumor. The CNS tumor was a primitive neuroectodermal tumor (PNET). The karyotype of the RTK was normal male. The PNET of the brain demonstrated monosomy 22 as the only cytogenetic abnormality, similar to reported cases of malignant rhabdoid tumor of the brain, but dissimilar to nonrandom cytogenetic findings in other CNS PNETs. Molecular cytogenetic and DNA marker studies confirmed loss of chromosome 22 in this patient's brain tumor. DNA allelotyping showed retention of both parental chromosome 22 alleles in the RTK and loss of the maternal allele in the PNET. Evaluation of additional RTKs and brain tumors occurring in the same patient may provide insight into the origins and relationships of these enigmatic tumors.

Original languageEnglish (US)
Pages (from-to)146-152
Number of pages7
JournalGenes Chromosomes and Cancer
Issue number3
Publication statusPublished - 1994


ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this