Molecular diagnostics in the management of rhabdomyosarcoma

Expert Rev Mol Diagn. 2017 Feb;17(2):189-194. doi: 10.1080/14737159.2017.1275965. Epub 2017 Jan 6.


A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome than histologic classification. Identifying additional molecular hallmarks that further subclassify RMS is an active area of research. Areas Covered: The authors review the current state of the PAX3-FOXO1 and PAX7-FOXO1 fusions as prognostic biomarkers. Emerging biomarkers, including mRNA expression profiling, MYOD1 mutations, RAS pathway mutations and gene fusions involving NCOA2 or VGLL2 are also reviewed. Expert commentary: Strategies for modifying RMS risk stratification based on molecular biomarkers are emerging with the potential to transform the clinical management of RMS, ultimately improving patient outcomes by tailoring therapy to predicted patient risk and identifying targets for novel therapies.

Keywords: FGFR4; MYOD1; NCOA2; RAS; Rhabdomyosarcoma; VGLL2; fusion oncogene; gene amplification; molecular testing; risk stratification.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Muscle Proteins / genetics
  • MyoD Protein / genetics
  • Nuclear Receptor Coactivator 1 / genetics
  • Oncogene Protein p21(ras) / genetics
  • Oncogene Proteins, Fusion / genetics
  • Paired Box Transcription Factors / genetics
  • Rhabdomyosarcoma / diagnosis*
  • Rhabdomyosarcoma / genetics*
  • Transcription Factors / genetics


  • Biomarkers, Tumor
  • Muscle Proteins
  • MyoD Protein
  • MyoD1 myogenic differentiation protein
  • Oncogene Proteins, Fusion
  • PAX3-FOXO1A fusion protein, human
  • PAX7-FOXO1A fusion protein, human
  • Paired Box Transcription Factors
  • Transcription Factors
  • VGLL2 protein, human
  • NCOA1 protein, human
  • Nuclear Receptor Coactivator 1
  • Oncogene Protein p21(ras)