Molecular profile of head and neck rhabdomyosarcomas: A systematic review and meta-analysis

Oral Surg Oral Med Oral Pathol Oral Radiol. 2022 Sep;134(3):354-366. doi: 10.1016/j.oooo.2021.12.128. Epub 2021 Dec 25.


Objective: This systematic review aimed to identify the molecular alterations of head and neck rhabdomyosarcomas (HNRMS) and their prognostic values.

Study design: An electronic search was performed using PubMed, Embase, Scopus, and Web of Science with a designed search strategy. Inclusion criteria comprised cases of primary HNRMS with an established histopathological diagnosis and molecular analysis. Forty-nine studies were included and were appraised for methodological quality using the Joanna Briggs Institute Critical Appraisal tools. Five studies were selected for meta-analysis.

Results: HNRMS predominantly affects pediatric patients (44.4%), and the parameningeal region (57.7%) is the most common location. The alveolar variant (43.2%) predominates over the embryonal and spindle cell/sclerosing types, followed by the epithelioid and pleomorphic variants. PAX-FOXO1 fusion was observed in 103 cases of alveolar RMS (79.8%). MYOD1 mutation was found in 39 cases of sclerosing/spindle cell RMS (53.4%). FUS/EWSR1-TFCP2 gene fusions were identified in 21 cases of RMS with epithelioid and spindle cell morphologies (95.5%). The 5-year overall survival rate of patients was 61.3%, and MYOD1 mutation correlated with significantly higher mortality.

Conclusion: The genotypic profile of histologic variants of HNRMS is widely variable, and MYOD1 mutation could be a potential prognostic factor, but more studies are required to establish this.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Child
  • DNA-Binding Proteins / genetics
  • Humans
  • Mutation
  • Rhabdomyosarcoma* / genetics
  • Transcription Factors / genetics


  • DNA-Binding Proteins
  • TFCP2 protein, human
  • Transcription Factors