Sequenciamento do Proto-oncogene RET em uma Coorte de Pacientes com Carcinoma Medular de Tireoide do Estado da Bahia, Brasil

Autores

  • Rafael Reis Campos da Matta Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS). Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS). Salvador (BA), Brasil. https://orcid.org/0009-0003-6378-8579
  • Marli Teresinha Viapiana Camelier Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Endocrinologia. Porto Alegre (RS) Brasil. https://orcid.org/0000-0002-9581-4765
  • Taíse Lima de Oliveira Cerqueira Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS), Departamento de Biorregulação. Salvador (BA), Brasil. https://orcid.org/0009-0007-8658-1799
  • Jocyel Brito de Oliveira Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS). Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS). Salvador (BA), Brasil. https://orcid.org/0000-0002-1342-0368
  • Juliana Lima Von Amon Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS). Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS). Salvador (BA), Brasil. https://orcid.org/0000-0002-8513-992X
  • Ana Clara Tosta Telles Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS). Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS). Salvador (BA), Brasil. https://orcid.org/0000-0002-2855-5855
  • Gilberto Dauricio Silva Leite Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS), Departamento de Biorregulação. Salvador (BA), Brasil. https://orcid.org/0009-0004-6012-0669
  • Fabyan Esberard de Lima Beltrão Universidade Federal da Paraíba (UFPB), Hospital Universitário Lauro Wanderley (HULW). João Pessoa (PB), Brasil. https://orcid.org/0000-0001-9713-2584
  • Ana Luiza Silva Maia Universidade Federal do Rio Grande do Sul (UFRGS), Escola de Medicina, Departamento de Medicina Interna. HCPA, Serviço de Endocrinologia. Porto Alegre (RS), Brasil. https://orcid.org/0000-0002-4186-5532
  • Helton Estrela Ramos Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde (ICS), Departamento de Biorregulação. PPGPIOS. Programa de Pós-Graduação em Medicina e Saúde (PPGMS). Salvador (BA), Brasil. https://orcid.org/0000-0002-2900-2099

DOI:

https://doi.org/10.32635/2176-9745.RBC.2024v70n4.4738

Palavras-chave:

Carcinoma Medular, Neoplasias da Glândula Tireoide, Mutação, Neoplasia Endócrina Múltipla Tipo 2a, Polimorfismo Genético

Resumo

Introdução: O carcinoma medular da tireoide é um câncer raro que se origina nas células C parafoliculares e pode ser esporádico ou hereditário. Tanto as doenças esporádicas quanto as hereditárias são causadas principalmente por mutações no proto-oncogene RET.Objetivo: Investigar
variantes germinativas patogênicas do gene RET em uma coorte de pacientes com carcinoma medular da tireoide no Estado da Bahia. Método: Estudo transversal, descritivo, envolvendo pacientes com diagnóstico histopatológico de carcinoma medular da tireoide, encaminhados para testes moleculares de 2020 a 2022. Dados clínicos e patológicos foram coletados de dados médicos. O DNA genômico foi extraído do sangue periférico. Os éxons 10, 11, 13, 14 e 15 do RET foram amplificados usando a técnica de reação em cadeia da polimerase e posteriormente sequenciados usando o método de Sanger. Resultados: O estudo incluiu 29 pacientes (82,8% mulheres). A idade média no diagnóstico foi de 46,5 ± 13,1 anos, e o tamanho médio do tumor foi de 2,1 ± 1,4 cm. De acordo com a classificação
TNM, 38% dos tumores foram estadiados como T1a, 27,6% como T1b, 24,1% como T2 e 10,3% como T3. Metástase linfonodal regional (N1) esteve presente em 44,8% dos casos. Metástase a distância (M1) para o mediastino foi observada em um caso (3,4%). Variantes do RET foram identificadas em 55,2% dos pacientes. A variante patogênica C634R foi identificada em um paciente (3,4%). Conclusão: Este estudo conseguiu descrever o perfil clínico e molecular de pacientes com carcinoma medular de tireoide no Estado da Bahia.

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2024-09-30

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1.
Matta RRC da, Camelier MTV, Cerqueira TL de O, Oliveira JB de, Amon JLV, Telles ACT, Leite GDS, Beltrão FE de L, Maia ALS, Ramos HE. Sequenciamento do Proto-oncogene RET em uma Coorte de Pacientes com Carcinoma Medular de Tireoide do Estado da Bahia, Brasil. Rev. Bras. Cancerol. [Internet]. 30º de setembro de 2024 [citado 12º de outubro de 2024];70(4):e-024738. Disponível em: https://rbc.inca.gov.br/index.php/revista/article/view/4738

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