A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer

Richard J. Robbins; Jessica S. Thomas; Patricia Mejia Osuna; Jawairia Shakil

doi:10.1155/2020/7641940

A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer

Richard J. Robbins, Jessica S. Thomas, Patricia Mejia Osuna, Jawairia Shakil

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5 Scopus citations

Abstract

We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We conclude that this common BRAF mutation may independently drive neoplastic transformation of human parafollicular C cells.

Original language	English (US)
Article number	7641940
Journal	Case Reports in Endocrinology
Volume	2020
DOIs	https://doi.org/10.1155/2020/7641940
State	Published - 2020

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism

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10.1155/2020/7641940

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title = "A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer",

abstract = "We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We conclude that this common BRAF mutation may independently drive neoplastic transformation of human parafollicular C cells.",

author = "Robbins, \{Richard J.\} and Thomas, \{Jessica S.\} and Osuna, \{Patricia Mejia\} and Jawairia Shakil",

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AB - We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We conclude that this common BRAF mutation may independently drive neoplastic transformation of human parafollicular C cells.

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A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer

Abstract

ASJC Scopus subject areas

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