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 - Funding Information:
The authors wish to give a special acknowledgment to Roman Carlos, DDS, a brilliant clinician and prestigious oral pathologist in Latin America and worldwide, whose humanism and academic enthusiasm will be remembered. He passed away on November 5, 2021, but he contributed significantly to this study with his experience, knowledge, and guidance. Additionally, the authors are grateful to Dr. Marianne de Vasconcelos Carvalho, School of Dentistry, Pernambuco University (UPE), Recife, Pernambuco, Brazil, for contributing to this article. KPDG is supported by the Coordination for the Improvement of Higher Education Personnel (CAPES), Ministry of Education, Brazil; the Brazilian National Council for Scientific and Technological Development through the PEC-PG (student's postgraduate agreement program, Process No. 88881.284222/2018-01; and the National Program of Postgraduate Scholarships Abroad “Don Carlos Antonio López” (BECAL) Ninth Self-managed Call for Applications 2019, Paraguay.
Funding Information:
KPDG is supported by the Coordination for the Improvement of Higher Education Personnel (CAPES), Ministry of Education, Brazil; the Brazilian National Council for Scientific and Technological Development through the PEC-PG (student's postgraduate agreement program, Process No. 88881.284222/2018-01; and the National Program of Postgraduate Scholarships Abroad “Don Carlos Antonio López” (BECAL) Ninth Self-managed Call for Applications 2019, Paraguay.
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 - http://www.scopus.com/inward/record.url?scp=85134352956&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85134352956&partnerID=8YFLogxK
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 and Oral Pathology
JF - Oral Surgery Oral Medicine and Oral Pathology
IS - 3
ER -