Contribution of molecular genetic data to the classification of sarcomas

Many sarcomas are characterized by specific recurrent chromosomal transloca tions which provide powerful diagnostic tumor markers. Since 1992, the gene s involved by almost all of these translocations have been cloned, inaugura ting a new era in the study of sarcomas. At the biological level, these chr omosomal translocations produce highly specific gene fusions, usually encod ing aberrant chimeric transcription factors. Clinically, the correlation of these translocation-derived genetic markers and discrete histopathologic e ntities has been remarkable. Fusion gene detection has confirmed and refine d the nosology of several sarcoma groups. The overall effect has been to st rengthen certain pathological concepts rather than to revolutionize. The fo cus of this brief review is the recent impact that the cytogenetic and mole cular detection of these translocations has had on sarcoma diagnosis and cl assification. Copyright (C) 2000 by W.B. Saunders Company.