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Brondani, Vania Balderrama ^[1] ; Montenegro, Luciana ^[2] ; Ferreira Lacombe, Amanda Meneses ^[1] ; Magalhaes, Breno Marchiori ^[1] ; Nishi, Mirian Yumie ^[2] ; de Assis Funari, Mariana Ferreira ^[2] ; Narcizo, Amanda de Moraes ^[3] ; Cardoso, Lais Cavalca ^[3] ; Coelho Siqueira, Sheila Aparecida ^[4] ; Nogueira Zerbini, Maria Claudia ^[4] ; Denes, Francisco Tibor ^[5] ; Latronico, Ana Claudia ^{[1, 2]} ; Mendonca, Berenice Bilharinho ^{[1, 2]} ; Almeida, Madson Queiroz ^{[1, 2, 6]} ; Lerario, Antonio Marcondes ^[7] ; Soares, Ibere Cauduro ^[8] ; Barisson Villares Fragoso, Maria Candida ^{[1, 2, 6]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Lab Hormonios & Genet Mol LIM 42, Unidade Suprarrenal, Serv Endocrinol & Metabol, Hosp Clin, Fac Med, Sao Paulo 0540396 - Brazil

^[2] Univ Sao Paulo, Lab Hormonios & Genet Mol LIM 42, Serv Endocrinol & Metabol, Hosp Clin, Fac Med, Sao Paulo 0540396 - Brazil

^[3] Univ Sao Paulo, Lab Sequenciamento Larga Escala SELA, Fac Med, Sao Paulo 0540396 - Brazil

^[4] Univ Sao Paulo, Dept Anat Patol, Fac Med, Sao Paulo 0540396 - Brazil

^[5] Univ Sao Paulo, Serv Urol, Hosp Clin, Fac Med, Sao Paulo 0540396 - Brazil

^[6] Univ Sao Paulo, Serv Endocrinol, Inst Canc Estado Sao Paulo ICESP, Fac Med, Sao Paulo 0540396 - Brazil

^[7] Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet, Ann Arbor, MI 48109 - USA

^[8] Univ Sao, Serv Anat Patol, Inst Canc Estado Sao Paulo ICESP, Fac Med, Sao Paulo 0540396 - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CANCERS; v. 12, n. 3 MAR 2020.
• Citações Web of Science: 0

Resumo

Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatric patients with adrenocortical neoplasia from southern Brazil, where the prevalence of a specific TP53 germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for theMMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the TP53 p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the MMR genes (two in MLH1 and one in MSH6). The prevalence of alteredMMR genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome. (AU)

• Processo FAPESP: 17/26345-5 - Avaliação de fatores prognósticos dos tumores do córtex da suprarrenal e preditivos da resposta ao tratamento com mitotano em carcinomas
• Beneficiário: Maria Candida Barisson Villares Fragoso
• Modalidade de apoio: Auxílio à Pesquisa - Regular