Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC), a neuroendocrine tumor originating from thyroid parafollicular cells, has been demonstrated to be associated with mutations in RET, HRAS, KRAS and NRAS. However, the role of other genes involved in the oncogenesis of neural crest tumors remains to be fully investig...

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Detalles Bibliográficos
Autores: Nascimento, Fabricio P. [UNIFESP], Cardoso, Mirian G. [UNIFESP], Lindsey, Susan C. [UNIFESP], Kunii, Ilda S. [UNIFESP], Valente, Flavia O. F. [UNIFESP], Kizys, Marina M. L. [UNIFESP], Delcelo, Rosana [UNIFESP], Camacho, Cleber P. [UNIFESP], Maciel, Rui M. B. [UNIFESP], Dias-da-Silva, Magnus R. [UNIFESP]
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Brasil
Institución:Universidade Federal de São Paulo (UNIFESP)
Repositorio:Repositório Institucional da UNIFESP
Idioma:inglés
OAI Identifier:oai:repositorio.unifesp.br:11600/58475
Acceso en línea:https://doi.org/10.3892/mmr.2015.4731
https://repositorio.unifesp.br/handle/11600/58475
Access Level:acceso abierto
Palabra clave:medullary thyroid cancer
somatic mutation
RET
BRAF
RAS
CDKN2A
PI3KCA
Descripción
Sumario:Medullary thyroid carcinoma (MTC), a neuroendocrine tumor originating from thyroid parafollicular cells, has been demonstrated to be associated with mutations in RET, HRAS, KRAS and NRAS. However, the role of other genes involved in the oncogenesis of neural crest tumors remains to be fully investigated in MTC. The current study aimed to investigate the presence of somatic mutations in BRAF, CDKN2A and PI3KCA in MTC, and to investigate the correlation with disease progression. DNA was isolated from paraffin-embedded tumors and blood samples from patients with MTC, and the hotspot somatic mutations were sequenced. A total of 2 novel HRAS mutations, p.Asp33Asn and p.His94Tyr, and polymorphisms within the 3' untranslated region (UTR) of CDKN2A (rs11515 and rs3088440) were identified, however, no mutations were observed in other genes. It was suggested that somatic point mutations in BRAF, CDKN2A and PI3KCA do not participate in the oncogenesis of MTC. Further studies are required in order to clarify the contribution of the polymorphisms identified in the 3' UTR of CDKN2A in MTC.

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