Chromosomal aberrations in soft tissue tumors: Relevance to diagnosis, classification, and molecular mechanisms Journal Article


Authors: Sreekantaiah, C.; Ladanyi, M.; Rodriguez, E.; Chaganti, R. S. K.
Article Title: Chromosomal aberrations in soft tissue tumors: Relevance to diagnosis, classification, and molecular mechanisms
Abstract: In recent years, significant progress has been made in identifying characteristic chromosomal rearrangements associated with several solid tumor types, notably sarcomas, a relatively rare subset of human cancer. Most sarcomas analyzed have been found to be characterized by recurrent chromosome translocations that are specific to histological types. We have reviewed published reports of chromosomal aberrations in benign and malignant soft tissue tumors and found an incidence of specific translocations in these neoplasms that ranged from 20% to 93% within histological tumor types. Identification of recurrent chromosomal abnormalities in benign tumors has resulted in a reappraisal of the general concept that benign tumors have a normal (diploid) chromosome constitution. The variety of recurrent changes present in the different tumor types attests to the cytogenetic diversity inherent in these tumors. The chromosomal rearrangements in each of the tumor types were unique and did not correspond to cancer-associated aberrations known from other solid or hematopoietic malignancies. Cytogenetics thus provides an essential adjunct to diagnostic surgical pathology in the case of malignant soft tissue tumors, which often present substantial diagnostic challenges. In addition, it represents another approach to determine the histogenetic origin of some tumors and identifies sites of gene deregulation for molecular analysis. Indeed, recent molecular analyses of several sarcoma- associated translocations have identified novel genes and novel mechanisms of their dysregulation.
Keywords: human tissue; major clinical study; review; cytogenetics; ewing sarcoma; fibrosarcoma; malignant mesothelioma; chromosome rearrangement; chromosome translocation; chromosome aberrations; leiomyosarcoma; rhabdomyosarcoma; synovial sarcoma; chromosome deletion; chondrosarcoma; uterus myoma; soft tissue neoplasms; soft tissue tumor; liposarcoma; clear cell sarcoma; desmoid tumor; lipoma; soft tissue cancer; human; male; female; priority journal; support, u.s. gov't, p.h.s.
Journal Title: American Journal of Pathology
Volume: 144
Issue: 6
ISSN: 0002-9440
Publisher: Elsevier Science, Inc.  
Date Published: 1994-06-01
Start Page: 1121
End Page: 1134
Language: English
PUBMED: 8203453
PROVIDER: scopus
PMCID: PMC1887449
DOI/URL:
Notes: Review -- Export Date: 1 February 2019 -- Source: Scopus
Citation Impact
MSK Authors
  1. Marc Ladanyi
    1326 Ladanyi
  2. Raju S K Chaganti
    391 Chaganti