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

Karen Patricia Domínguez Gallagher, Willie van Heerden, Nasser Said-Al-Naief, Roman Carlos, Lady Paola Aristizabal Arboleda, Carla Isabelly Rodrigues-Fernandes, Anna Luíza Damaceno Araújo, Felipe Paiva Fonseca, Hélder Antônio Rebelo Pontes, Lara Maria Alencar Ramos Innocentini, Mário José Romañach, Pablo Agustin Vargas, Márcio Ajudarte Lopes, Alan Roger Santos-Silva, Syed Ali Khurram

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)354-366
Number of pages13
JournalOral surgery, oral medicine, oral pathology and oral radiology
Issue number3
StatePublished - Sep 2022
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Oral Surgery
  • Pathology and Forensic Medicine
  • Dentistry (miscellaneous)
  • Radiology Nuclear Medicine and imaging


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