Contribution of molecular genetic data to the classification of sarcomas

Marc Ladanyi, Julia A. Bridge

Research output: Contribution to journalArticlepeer-review

116 Scopus citations


Many sarcomas are characterized by specific recurrent chromosomal translocations which provide powerful diagnostic tumor markers. Since 1992, the genes involved by almost all of these translocations have been cloned, inaugurating a new era in the study of sarcomas. At the biological level, these chromosomal translocations produce highly specific gene fusions, usually encoding aberrant chimeric transcription factors. Clinically, the correlation of these translocation-derived genetic markers and discrete histopathologic entities has been remarkable. Fusion gene detection has confirmed and refined the nosology of several sarcoma groups. The overall effect has been to strengthen certain pathological concepts rather than to revolutionize. The focus of this brief review is the recent impact that the cytogenetic and molecular detection of these translocations has had on sarcoma diagnosis and classification. (C) 2000 by W.B. Saunders Company.

Original languageEnglish (US)
Pages (from-to)532-538
Number of pages7
JournalHuman Pathology
Issue number5
StatePublished - 2000


  • Bone and soft tissue
  • Chromosome translocation
  • Molecular diagnosis
  • Tumors

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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