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BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review

Background: Thyroid carcinoma (TC) is the most common endocrine cancer, with papillary thyroid carcinoma (PTC) being the most common subtype. BRAF and RAS oncogene were characterized as the most frequently altered genes in PTC, with a strong association between genotype and histotype. The most commo...

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Autores principales: Matrone, Antonio, Citro, Fabrizia, Gambale, Carla, Prete, Alessandro, Minaldi, Elisa, Ciampi, Raffaele, Ramone, Teresa, Materazzi, Gabriele, Torregrossa, Liborio, Elisei, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672186/
https://www.ncbi.nlm.nih.gov/pubmed/38002585
http://dx.doi.org/10.3390/jcm12226970
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author Matrone, Antonio
Citro, Fabrizia
Gambale, Carla
Prete, Alessandro
Minaldi, Elisa
Ciampi, Raffaele
Ramone, Teresa
Materazzi, Gabriele
Torregrossa, Liborio
Elisei, Rossella
author_facet Matrone, Antonio
Citro, Fabrizia
Gambale, Carla
Prete, Alessandro
Minaldi, Elisa
Ciampi, Raffaele
Ramone, Teresa
Materazzi, Gabriele
Torregrossa, Liborio
Elisei, Rossella
author_sort Matrone, Antonio
collection PubMed
description Background: Thyroid carcinoma (TC) is the most common endocrine cancer, with papillary thyroid carcinoma (PTC) being the most common subtype. BRAF and RAS oncogene were characterized as the most frequently altered genes in PTC, with a strong association between genotype and histotype. The most common mutation in BRAF gene is V600E and is prevalent in classic and aggressive variants of PTC, while BRAF K601E mutation is the most common among the other rare BRAF mutations. BRAF K601E mutated thyroid carcinomas are usually characterized by low aggressiveness, except for anecdotal cases of poorly differentiated TC. Case presentation: We described a case of oncocytic carcinoma of the thyroid (OCA) with an aggressive clinical course, including widespread metastasis and resistance to radioiodine treatment. Molecular analysis revealed the exclusive presence of the BRAF K601E mutation in both primary tumor and metastatic lesions. Accordingly, a revision of the literature about aggressive TC cases carrying BRAF K601E mutation was performed. Conclusion: Although rare, this case emphasizes the relevance of considering BRAF K601E mutation in advanced non-PTC thyroid carcinomas, since it can be considered an actionable mutation for target therapies.
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spelling pubmed-106721862023-11-07 BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review Matrone, Antonio Citro, Fabrizia Gambale, Carla Prete, Alessandro Minaldi, Elisa Ciampi, Raffaele Ramone, Teresa Materazzi, Gabriele Torregrossa, Liborio Elisei, Rossella J Clin Med Case Report Background: Thyroid carcinoma (TC) is the most common endocrine cancer, with papillary thyroid carcinoma (PTC) being the most common subtype. BRAF and RAS oncogene were characterized as the most frequently altered genes in PTC, with a strong association between genotype and histotype. The most common mutation in BRAF gene is V600E and is prevalent in classic and aggressive variants of PTC, while BRAF K601E mutation is the most common among the other rare BRAF mutations. BRAF K601E mutated thyroid carcinomas are usually characterized by low aggressiveness, except for anecdotal cases of poorly differentiated TC. Case presentation: We described a case of oncocytic carcinoma of the thyroid (OCA) with an aggressive clinical course, including widespread metastasis and resistance to radioiodine treatment. Molecular analysis revealed the exclusive presence of the BRAF K601E mutation in both primary tumor and metastatic lesions. Accordingly, a revision of the literature about aggressive TC cases carrying BRAF K601E mutation was performed. Conclusion: Although rare, this case emphasizes the relevance of considering BRAF K601E mutation in advanced non-PTC thyroid carcinomas, since it can be considered an actionable mutation for target therapies. MDPI 2023-11-07 /pmc/articles/PMC10672186/ /pubmed/38002585 http://dx.doi.org/10.3390/jcm12226970 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Matrone, Antonio
Citro, Fabrizia
Gambale, Carla
Prete, Alessandro
Minaldi, Elisa
Ciampi, Raffaele
Ramone, Teresa
Materazzi, Gabriele
Torregrossa, Liborio
Elisei, Rossella
BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title_full BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title_fullStr BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title_full_unstemmed BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title_short BRAF K601E Mutation in Oncocytic Carcinoma of the Thyroid: A Case Report and Literature Review
title_sort braf k601e mutation in oncocytic carcinoma of the thyroid: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672186/
https://www.ncbi.nlm.nih.gov/pubmed/38002585
http://dx.doi.org/10.3390/jcm12226970
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