A specific chromosomal abnormality in rhabdomyosarcoma

Edwin C. Douglass, M. Valentine, E. Etcubanas, D. Parham, B. L. Webber, P. J. Houghton, A. A. Green

Research output: Contribution to journalArticle

265 Scopus citations

Abstract

A specific chromosomal abnormality, t(2;13)(q35;ql4), was discovered in five cases of advanced rhabdomyosarcoma. It was identified directly in cells that had metastasized from bone marrow in one patient and in xenografts derived from the tumors of four other patients. The translocation was not restricted by histologic subtype, but was found in cases classified as alveolar, undifferentiated, or embryonal. Cytogenetic hallmarks of gene amplification (double minute chromosomes and homogeneously staining regions) were apparent in three cases. Other frequent abnormalities included rearrangements of chromosome lp and trisomy of chromosome 8. The absence of the t(2;13) in more than 100 cases of other pediatric solid tumors investigated in our laboratory indicates its specificity for rhabdomyosarcoma. These cytogenetic findings suggest directions for further investigation of the molecular events underlying the genesis of this tumor.

Original languageEnglish (US)
Pages (from-to)148-155
Number of pages8
JournalCytogenetic and Genome Research
Volume45
Issue number3-4
DOIs
StatePublished - Jan 1 1987
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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  • Cite this

    Douglass, E. C., Valentine, M., Etcubanas, E., Parham, D., Webber, B. L., Houghton, P. J., & Green, A. A. (1987). A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenetic and Genome Research, 45(3-4), 148-155. https://doi.org/10.1159/000132446