Cancers, Vol. 12, Pages 621: High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

Cancers, Vol. 12, Pages 621: High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53 Cancers doi: 10.3390/cancers12030621 Authors: Vania Balderrama Brondani Luciana Montenegro Amanda Meneses Ferreira Lacombe Breno Marchiori Magalhães Mirian Yumie Nishi Mariana Ferreira de Assis Funari Amanda de Moraes Narcizo Lais Cavalca Cardoso Sheila Aparecida Coelho Siqueira Maria Claudia Nogueira Zerbini Francisco Tibor Denes Ana Claudia Latronico Berenice Bilharinho Mendonca Madson Queiroz Almeida Antonio Marcondes Lerario Ibere Cauduro Soares Maria Candida Barisson Villares Fragoso 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 the MMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumo...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research

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