Molecular differential pathology of rhabdomyosarcoma

Heidi Scrable, David Witte, Hiroyuki Shimada, Thomas Seemayer, Sheng Wang‐Wuu, Shirley Soukup, Alex Koufos, Peter Houghton, Beatrice Lampkin, Webster Cavenee

Research output: Contribution to journalArticlepeer-review

197 Scopus citations


Tumors of the soft tissues are classified histogenetically according to their phenotypic resemblance to normal adult tissue. Here we describe molecular approaches that make it possible to distinguish between one class of these tumors, rhabdomyosarcoma, and other small‐, round‐cell tumors. We show that the ascertainment of specific genotypic changes can be used to distinguish further between the embryonal and alveolar subtypes of rhabdomyosarcoma. We tested our model in two ways: first, in a retrospective analysis of diagnostically problematic cases of undifferentiated, small‐cell tumors and, second, in a blind study of pediatric tumors. Rhabdomyosarcoma was correctly identified in all cases using this strategy alone. The underlying simplicity of the strategy used to define rhabdomyosarcoma subtypes with molecular markers suggests a model by which tumors can be unequivocally identified, which may apply equally well to other human solid tumors.

Original languageEnglish (US)
Pages (from-to)23-35
Number of pages13
JournalGenes, Chromosomes and Cancer
Issue number1
StatePublished - Sep 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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