[Molecular biology for sarcoma: useful or necessary?]

Ann Pathol. 2015 Jan;35(1):107-13. doi: 10.1016/j.annpat.2014.11.004. Epub 2014 Dec 20.
[Article in French]

Abstract

Sarcomas are a heterogeneous group of tumors. Their diagnosis is based on morphology and immunohistochemical profile, with categories of tumors according to the type of tissue that they resemble. Nevertheless, for several tumors, cellular origin is unknown. Molecular analysis performed in recent years allowed, combining histophenotype and genomics, better classifying such sarcomas, individualizing new entities and grouping some tumors. Simple and recurrent genetic alterations, such as translocation, mutation, amplification, can be identified in one of two sarcomas and appear as new diagnostic markers. Their identification in specialized laboratories in molecular pathology of sarcomas is often useful and sometimes necessary for a good diagnosis, leading to a heavy and multidisciplinary multi-step treatment.

Keywords: Biologie moléculaire; Daily practice; Diagnosis; Diagnostic; Molecular biology; Routine; Sarcoma; Sarcomes.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / immunology
  • Bone Neoplasms / chemistry
  • Bone Neoplasms / diagnosis*
  • Bone Neoplasms / genetics
  • Bone Neoplasms / pathology
  • Chromosome Aberrations
  • Gene Amplification
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Molecular Diagnostic Techniques*
  • Mutation
  • Oncogene Proteins, Fusion / analysis
  • Oncogene Proteins, Fusion / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma / chemistry
  • Sarcoma / diagnosis*
  • Sarcoma / genetics
  • Sarcoma / pathology
  • Sequence Analysis, DNA
  • Soft Tissue Neoplasms / chemistry
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / pathology
  • Translocation, Genetic

Substances

  • Biomarkers, Tumor
  • Oncogene Proteins, Fusion