1. Molecular profile of head and neck rhabdomyosarcomas: A systematic review and meta-analysis.
- Author
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Gallagher KPD, van Heerden W, Said-Al-Naief N, Carlos R, Arboleda LPA, Rodrigues-Fernandes CI, Araújo ALD, Fonseca FP, Pontes HAR, Innocentini LMAR, Romañach MJ, Vargas PA, Lopes MA, Santos-Silva AR, and Khurram SA
- Subjects
- Child, DNA-Binding Proteins genetics, Humans, Mutation, Transcription Factors genetics, Rhabdomyosarcoma genetics
- 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., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2022
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