Malignant rhabdoid tumor: A highly malignant childhood tumor with minimal karyotypic changes

Edwin C. Douglass, Marc Valentine, Susan T. Rowe, David M. Parham, Judith A. Wilimas, Joann M. Sanders, Peter J. Houghton

Research output: Contribution to journalArticlepeer-review

65 Scopus citations


Malignant rhabdoid tumors (MRT) are rare; thus very few cytogenetic studies of this type of tumor have been performed. We report the results of cytogenetic studies of 10 MRTs from various anatomic primary sites. Six cases had normal diploid karyotypes with no detectable rearrangements or aneuploidy except for occasional tetraploid cells. In 4 of these cases the tumor phenotype was verified by electron microscopic studies. In a seventh case only normal cells were identified in short‐term culture, but a del(13)(q14) appeared after 4 months in culture. A soft tissue MRT contained a translocation, t(8;15)(q12;p11), and a liver MRT contained a del(3)(q21) or t(3;?)(q21;?). The single case of a primary brain MRT had monosomy 22 with deletion of part of the remaining chromosome 22. Our findings indicate that visible chromosomal rearrangements occur in fewer than half of MRTs. When combined with other reported series, our study indicates that monosomy 22 is a non‐random chromosomal abnormality in primary MRT of the brain.

Original languageEnglish (US)
Pages (from-to)210-216
Number of pages7
JournalGenes, Chromosomes and Cancer
Issue number3
StatePublished - Sep 1990
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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