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Article

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

by
Vania Balderrama Brondani
1,*,
Luciana Montenegro
2,*,
Amanda Meneses Ferreira Lacombe
1,
Breno Marchiori Magalhães
1,
Mirian Yumie Nishi
2,
Mariana Ferreira de Assis Funari
2,
Amanda de Moraes Narcizo
3,
Lais Cavalca Cardoso
3,
Sheila Aparecida Coelho Siqueira
4,
Maria Claudia Nogueira Zerbini
4,
Francisco Tibor Denes
5,
Ana Claudia Latronico
1,2,
Berenice Bilharinho Mendonca
1,2,
Madson Queiroz Almeida
1,2,6,
Antonio Marcondes Lerario
7,
Ibere Cauduro Soares
8 and
Maria Candida Barisson Villares Fragoso
1,2,6,*
1
Laboratório de Hormônios e Genética Molecular LIM/42, Unidade de Suprarrenal, Serviço de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
2
Laboratório de Hormônios e Genética Molecular LIM/42, Serviço de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
3
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
4
Departamento de Anatomia Patológica, Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
5
Serviço de Urologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
6
Serviço de Endocrinologia, Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
7
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI 48109, USA
8
Serviço de Anatomia Patológica, Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo 0540396, Brasil
*
Authors to whom correspondence should be addressed.
Cancers 2020, 12(3), 621; https://doi.org/10.3390/cancers12030621
Submission received: 4 February 2020 / Revised: 3 March 2020 / Accepted: 4 March 2020 / Published: 7 March 2020
(This article belongs to the Special Issue Adrenocortical Carcinoma)
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Abstract

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 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 altered MMR 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.
Keywords: adrenal tumor; DNA mismatch repair; TP53 adrenal tumor; DNA mismatch repair; TP53

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MDPI and ACS Style

Brondani, V.B.; Montenegro, L.; Lacombe, A.M.F.; Magalhães, B.M.; Nishi, M.Y.; Funari, M.F.d.A.; Narcizo, A.d.M.; Cardoso, L.C.; Siqueira, S.A.C.; Zerbini, M.C.N.; et al. 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 2020, 12, 621. https://doi.org/10.3390/cancers12030621

AMA Style

Brondani VB, Montenegro L, Lacombe AMF, Magalhães BM, Nishi MY, Funari MFdA, Narcizo AdM, Cardoso LC, Siqueira SAC, Zerbini MCN, et al. 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. 2020; 12(3):621. https://doi.org/10.3390/cancers12030621

Chicago/Turabian Style

Brondani, Vania Balderrama, 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, and et al. 2020. "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 12, no. 3: 621. https://doi.org/10.3390/cancers12030621

APA Style

Brondani, V. B., Montenegro, L., Lacombe, A. M. F., Magalhães, B. M., Nishi, M. Y., Funari, M. F. d. A., Narcizo, A. d. M., Cardoso, L. C., Siqueira, S. A. C., Zerbini, M. C. N., Denes, F. T., Latronico, A. C., Mendonca, B. B., Almeida, M. Q., Lerario, A. M., Soares, I. C., & Fragoso, M. C. B. V. (2020). 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, 12(3), 621. https://doi.org/10.3390/cancers12030621

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