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

doi:10.1016/j.oooo.2021.12.128

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.

Authors

Karen Patricia Domínguez Gallagher¹, Willie van Heerden², Nasser Said-Al-Naief³, Roman Carlos⁴, Lady Paola Aristizabal Arboleda⁵, Carla Isabelly Rodrigues-Fernandes⁵, Anna Luíza Damaceno Araújo⁵, Felipe Paiva Fonseca⁶, Hélder Antônio Rebelo Pontes⁷, Lara Maria Alencar Ramos Innocentini⁸, Mário José Romañach⁹, Pablo Agustin Vargas⁵, Márcio Ajudarte Lopes⁵, Alan Roger Santos-Silva¹⁰, Syed Ali Khurram¹¹

Affiliations

¹ Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil; Practicing Graduate Professor, School of Dentistry, National University of Asunción (UNA), Asunción, Paraguay.
² Department of Oral Pathology and Oral Biology, School of Dentistry, University of Pretoria, South Africa.
³ Professor, Oral and Maxillofacial Pathology, Oregon Health and Science University, School of Dentistry and School of Medicine, OR, USA.
⁴ Department of Pathology, Integra Cancer Center, Guatemala City, Guatemala.
⁵ Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil.
⁶ Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brazil.
⁷ Oral Pathology Department, João de Barros Barreto University Hospital, Federal University of Pará, Belém, Pará, Brazil.
⁸ Dentistry and Stomatology Division, Ophthalmology, Otolaryngology and Head and Neck Surgery Department, University Hospital of the Ribeirão Preto Medical School, University of São Paulo, SP, Brazil.
⁹ Department of Oral Diagnosis and Pathology, School of Dentistry, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
¹⁰ Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil. Electronic address: alanroger@fop.unicamp.br.
¹¹ Unit of Oral & Maxillofacial Pathology, School of Clinical Dentistry, University of Sheffield, Sheffield, UK.

PMID: 35840496
DOI: 10.1016/j.oooo.2021.12.128

Abstract

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

Substances

DNA-Binding Proteins
TFCP2 protein, human
Transcription Factors