Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Rhabdomyosarcoma (RMS), a rare malignant tumor, frequently affects pediatric patients, with 35%-40% occurring in the head and neck. This study analyzes the clinicopathologic profile of pediatric head and neck rhabdomyosarcomas from Brazil, Guatemala, Mexico, and South Africa. METHODS: We reviewed 44 cases from 10 Oral and Maxillofacial Pathology services, conducting immunohistochemical analyses of desmin, myogenin, Myo-D1, and Ki67, with quantification via QuPath software. Cases with ≥ 50% myogenin expression were tested for fusion status using AP2β, NOS-1, and HMGA2. Statistical analyses included the Kruskal-Wallis test for age and marker expression comparisons, Fisher's exact test for categorical variables, Spearman's rank correlation for marker relationships, and multinomial logistic regression to assess fusion status likelihood. RESULTS: Cases were predominantly from Brazil (40.9%), followed by South Africa (27.3%), Guatemala (22.7%), and Mexico (9.1%). Two-thirds of patients were diagnosed in their first decade with no gender predilection. Nonparameningeal sites (45.5%) were more affected than parameningeal (40.9%) and orbital sites. Microscopically, embryonal RMS (77.3%) was most common, followed by alveolar (18.2%) and spindle cell (2.3%) tumors. Immunohistochemistry revealed positivity for myogenic markers, with significant differences in myogenin expression between embryonal and alveolar RMS variants (p < 0.05). Fusion status prediction identified two potential fusion-positive alveolar RMS cases, while all embryonal RMS and one alveolar RMS case appeared fusion-negative. Significant correlation with positive fusion status was found only between AP2β and NOS1 (p < 0.05). CONCLUSION: Although there are slight clinical-demographic variations among pediatric head and neck rhabdomyosarcomas in these regions, identifying fusion status through immunohistochemistry remains a diagnostic challenge.
DOI: 10.1111/jop.13600
Authors: Karen Patricia Domínguez Gallagher, Keith D. Hunter, Lady Paola Aristizabal Arboleda, Caique Mariano Pedroso, Bruno Augusto Linhares Almeida Mariz, Paulo Victor Mendes Penafort, Lucas Lacerda de Souza, Carla Isabelly Rodrigues‐Fernandes, Elena María José Roman Tager, Roman Carlos, Liam Robinson, Ciska‐Mari Schouwstra, Francisco Germán Villanueva‐Sánchez, Francisco José Paz Gómez, María del Carmen González‐Galván, Allan Vinícius Martins‐de‐Barros, Marianne de Vasconcelos Carvalho, Roberta Barroso Cavalcante, Eveline Turatti, Hélder Antônio Rebelo Pontes, Sheila Aparecida Coelho Siqueira, Regina Maria Holanda de Mendonça, Lara Maria Alencar Ramos Innocentini, Leandro Dorigan de Macedo, Alfredo Ribeiro‐Silva, Aline Corrêa Abrahão, Mário José Romañach, Willie van Heerden, Pablo Agustin Vargas, Alan Roger Santos‐Silva
Institutions: Universidade Estadual de Campinas (UNICAMP), Universidad Nacional de Asunción, University of Liverpool, AC Camargo Hospital, University of Pretoria, Universidad Nacional Autónoma de México, Secretaria de Salud, Hospital Regional de Alta Especialidad del Bajío, Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Universidade de Fortaleza, Universidade Federal do Pará, Universidade de São Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Centro Infantil Boldrini, Clinics Hospital of Ribeirão Preto, Universidade Federal do Rio de Janeiro
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Award: G6815844370
OpenAlex ID: W4406131349