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 tumors wer...
Source: Cancers - Category: Cancer & Oncology Authors: Vania Balderrama Brondani Luciana Montenegro Amanda Meneses Ferreira Lacombe Breno Marchiori Magalh ães Mirian Yumie Nishi Mariana Ferreira de Assis Funari Amanda de Moraes Narcizo Lais Cavalca Cardoso Sheila Aparecida Coelho Siqueira Maria Claudia Nogue Tags: Article Source Type: research
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