Fluorescence in situ hybridization in the diagnosis of soft tissue neoplasms: a review

Adv Anat Pathol. 2009 Nov;16(6):383-91. doi: 10.1097/PAP.0b013e3181bb6b86.

Abstract

This paper presents an overview of the role of fluorescence in situ hybridization (FISH) in the diagnosis of soft tissue neoplasms. Many soft tissue neoplasms harbor characteristic translocations or amplification of gene regions, which can be assessed by FISH, and can be used to assist in their diagnosis. We discuss the major morphologic categories in which FISH has come to be used including high-grade round cell sarcomas, spindle cell sarcomas, low-grade myxoid neoplasms, adipocytic neoplasms, and malignant melanocytic neoplasms on the basis of a recent review of soft tissue neoplasms which were analyzed by FISH. We also review the molecular alterations (translocations and amplification of gene regions), which have come to define many of these diagnostic entities and the most effective way to evaluate them with FISH with attention to potential pitfalls. Finally, we discuss the advantages and disadvantages of FISH as a technique when appraising soft tissue neoplasms.

Publication types

  • Review

MeSH terms

  • Calmodulin-Binding Proteins / genetics
  • Chondrosarcoma / genetics
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Lipoma / diagnosis
  • Lipoma / genetics
  • Liposarcoma / diagnosis
  • Liposarcoma / genetics
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins / genetics
  • Rhabdomyosarcoma, Alveolar / genetics
  • Sarcoma / diagnosis
  • Sarcoma / genetics
  • Sarcoma, Clear Cell / diagnosis
  • Sarcoma, Clear Cell / genetics
  • Sarcoma, Ewing / diagnosis
  • Sarcoma, Ewing / genetics
  • Sarcoma, Small Cell / diagnosis
  • Sarcoma, Small Cell / genetics
  • Sarcoma, Synovial / diagnosis
  • Sarcoma, Synovial / genetics
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / genetics
  • Translocation, Genetic

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins