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BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer

Thyroid cancer is the most frequent endocrine malignancy, and its incidence and prevalence are increasing worldwide. Despite its generally good prognosis, the observed mortality rates are higher in the less-developed regions. This indicates that timely diagnosis and appropriate initial management of...

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Autores principales: Fernández-Ramírez, Fernando, Hurtado-López, Luis M., López, Mario A., Martínez-Peñafiel, Eva, Herrera-González, Norma E., Kameyama, Luis, Sepúlveda-Robles, Omar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902102/
https://www.ncbi.nlm.nih.gov/pubmed/29808165
http://dx.doi.org/10.1155/2018/2582179
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author Fernández-Ramírez, Fernando
Hurtado-López, Luis M.
López, Mario A.
Martínez-Peñafiel, Eva
Herrera-González, Norma E.
Kameyama, Luis
Sepúlveda-Robles, Omar
author_facet Fernández-Ramírez, Fernando
Hurtado-López, Luis M.
López, Mario A.
Martínez-Peñafiel, Eva
Herrera-González, Norma E.
Kameyama, Luis
Sepúlveda-Robles, Omar
author_sort Fernández-Ramírez, Fernando
collection PubMed
description Thyroid cancer is the most frequent endocrine malignancy, and its incidence and prevalence are increasing worldwide. Despite its generally good prognosis, the observed mortality rates are higher in the less-developed regions. This indicates that timely diagnosis and appropriate initial management of this disease are important to achieve a positive outcome. We performed an observational study in order to describe the frequency of the BRAF 1799T>A mutation in Mexican mestizo patients with thyroid nodules, a scarcely studied ethnic group with large populations. Competitive allele-specific Taqman PCR was performed in 147 samples of thyroid tissue DNA obtained from patients histologically diagnosed with papillary thyroid cancer (PTC), colloid goiters, and follicular adenomas. The BRAF 1799T>A mutation frequency was 61.1% in PTC samples (p = 4.99 × 10(−11)). Potential diagnostic values were as follows: sensitivity, 61.1%; specificity, 96%; PPV, 94.2%; NPV, 69.5%; accuracy, 77.9%. Taking into account the fact that this mutation is not frequently found in cytologically indeterminate nodules, we suggest that the BRAF mutational analysis should be implemented in the clinical setting along with other diagnostic criteria such as USG, in order to contribute to diagnosis and to surgical decision-making during the initial management of thyroid nodules in Mexican public hospitals.
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spelling pubmed-59021022018-05-28 BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer Fernández-Ramírez, Fernando Hurtado-López, Luis M. López, Mario A. Martínez-Peñafiel, Eva Herrera-González, Norma E. Kameyama, Luis Sepúlveda-Robles, Omar Biomed Res Int Research Article Thyroid cancer is the most frequent endocrine malignancy, and its incidence and prevalence are increasing worldwide. Despite its generally good prognosis, the observed mortality rates are higher in the less-developed regions. This indicates that timely diagnosis and appropriate initial management of this disease are important to achieve a positive outcome. We performed an observational study in order to describe the frequency of the BRAF 1799T>A mutation in Mexican mestizo patients with thyroid nodules, a scarcely studied ethnic group with large populations. Competitive allele-specific Taqman PCR was performed in 147 samples of thyroid tissue DNA obtained from patients histologically diagnosed with papillary thyroid cancer (PTC), colloid goiters, and follicular adenomas. The BRAF 1799T>A mutation frequency was 61.1% in PTC samples (p = 4.99 × 10(−11)). Potential diagnostic values were as follows: sensitivity, 61.1%; specificity, 96%; PPV, 94.2%; NPV, 69.5%; accuracy, 77.9%. Taking into account the fact that this mutation is not frequently found in cytologically indeterminate nodules, we suggest that the BRAF mutational analysis should be implemented in the clinical setting along with other diagnostic criteria such as USG, in order to contribute to diagnosis and to surgical decision-making during the initial management of thyroid nodules in Mexican public hospitals. Hindawi 2018-04-02 /pmc/articles/PMC5902102/ /pubmed/29808165 http://dx.doi.org/10.1155/2018/2582179 Text en Copyright © 2018 Fernando Fernández-Ramírez et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Fernández-Ramírez, Fernando
Hurtado-López, Luis M.
López, Mario A.
Martínez-Peñafiel, Eva
Herrera-González, Norma E.
Kameyama, Luis
Sepúlveda-Robles, Omar
BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title_full BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title_fullStr BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title_full_unstemmed BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title_short BRAF 1799T>A Mutation Frequency in Mexican Mestizo Patients with Papillary Thyroid Cancer
title_sort braf 1799t>a mutation frequency in mexican mestizo patients with papillary thyroid cancer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902102/
https://www.ncbi.nlm.nih.gov/pubmed/29808165
http://dx.doi.org/10.1155/2018/2582179
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