TY - JOUR
T1 - Molecular profile of head and neck rhabdomyosarcomas
T2 - A systematic review and meta-analysis
AU - Gallagher, Karen Patricia Domínguez
AU - van Heerden, Willie
AU - Said-Al-Naief, Nasser
AU - Carlos, Roman
AU - Arboleda, Lady Paola Aristizabal
AU - Rodrigues-Fernandes, Carla Isabelly
AU - Araújo, Anna Luíza Damaceno
AU - Fonseca, Felipe Paiva
AU - Pontes, Hélder Antônio Rebelo
AU - Innocentini, Lara Maria Alencar Ramos
AU - Romañach, Mário José
AU - Vargas, Pablo Agustin
AU - Lopes, Márcio Ajudarte
AU - Santos-Silva, Alan Roger
AU - Khurram, Syed Ali
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2022/9
Y1 - 2022/9
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85134352956
U2 - 10.1016/j.oooo.2021.12.128
DO - 10.1016/j.oooo.2021.12.128
M3 - Review article
C2 - 35840496
AN - SCOPUS:85134352956
SN - 2212-4403
VL - 134
SP - 354
EP - 366
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
IS - 3
ER -