Doing more with less: New markers for sarcoma diagnosis and their applicability to cytology specimens

Diagn Cytopathol. 2016 Apr;44(4):351-60. doi: 10.1002/dc.23428. Epub 2016 Jan 18.

Abstract

Sarcomas are a rare and extremely diverse set of neoplasms that are often a challenge to diagnose for pathologists. For a number of reasons, primary diagnosis of soft tissue neoplasms is increasingly being performed on small biopsy specimens including fine needle aspiration (FNA) and core needle biopsy (CNB). In the last several years, there has been a significant increase in our understanding of the molecular pathogenesis of this group of tumors. New insights into the genetic mechanisms of tumor formation have been exploited to create a new generation of diagnostic markers that are accessible to most laboratories. This review describes a number of new ancillary markers, and how they can facilitate accurate diagnosis of soft tissue neoplasms on FNA/CNB.

Keywords: fine needle aspiration; needle biopsy; sarcoma; soft tissue tumors.

Publication types

  • Review

MeSH terms

  • Adult
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Biomarkers, Tumor / genetics*
  • Biopsy, Fine-Needle
  • Biopsy, Large-Core Needle
  • Co-Repressor Proteins
  • Cyclin-Dependent Kinase 4 / genetics
  • Histocytochemistry
  • Humans
  • Mucin-4 / genetics
  • Proto-Oncogene Proteins c-mdm2 / genetics
  • Repressor Proteins / genetics
  • SMARCB1 Protein / genetics
  • SOXE Transcription Factors / genetics
  • STAT6 Transcription Factor / genetics
  • Sarcoma / diagnosis*
  • Sarcoma / genetics
  • Sarcoma / pathology
  • Sarcoma / surgery
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / pathology
  • Soft Tissue Neoplasms / surgery

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • Co-Repressor Proteins
  • MUC4 protein, human
  • Mucin-4
  • Repressor Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • SOX10 protein, human
  • SOXE Transcription Factors
  • STAT6 Transcription Factor
  • STAT6 protein, human
  • TFE3 protein, human
  • TLE1 protein, human
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2
  • CDK4 protein, human
  • Cyclin-Dependent Kinase 4