A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer

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 con...

Descripción completa

Detalles Bibliográficos
Autores principales: Robbins, Richard J., Thomas, Jessica S., Osuna, Patricia Mejia, Shakil, Jawairia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085839/
https://www.ncbi.nlm.nih.gov/pubmed/32231814
http://dx.doi.org/10.1155/2020/7641940
_version_ 1783509023613517824
author Robbins, Richard J.
Thomas, Jessica S.
Osuna, Patricia Mejia
Shakil, Jawairia
author_facet Robbins, Richard J.
Thomas, Jessica S.
Osuna, Patricia Mejia
Shakil, Jawairia
author_sort Robbins, Richard J.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7085839
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-70858392020-03-30 A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer Robbins, Richard J. Thomas, Jessica S. Osuna, Patricia Mejia Shakil, Jawairia Case Rep Endocrinol Case Report 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. Hindawi 2020-03-10 /pmc/articles/PMC7085839/ /pubmed/32231814 http://dx.doi.org/10.1155/2020/7641940 Text en Copyright © 2020 Richard J. Robbins et al. http://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 Case Report
Robbins, Richard J.
Thomas, Jessica S.
Osuna, Patricia Mejia
Shakil, Jawairia
A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title_full A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title_fullStr A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title_full_unstemmed A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title_short A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
title_sort braf v600e mutation in ret-negative medullary thyroid cancer
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085839/
https://www.ncbi.nlm.nih.gov/pubmed/32231814
http://dx.doi.org/10.1155/2020/7641940
work_keys_str_mv AT robbinsrichardj abrafv600emutationinretnegativemedullarythyroidcancer
AT thomasjessicas abrafv600emutationinretnegativemedullarythyroidcancer
AT osunapatriciamejia abrafv600emutationinretnegativemedullarythyroidcancer
AT shakiljawairia abrafv600emutationinretnegativemedullarythyroidcancer
AT robbinsrichardj brafv600emutationinretnegativemedullarythyroidcancer
AT thomasjessicas brafv600emutationinretnegativemedullarythyroidcancer
AT osunapatriciamejia brafv600emutationinretnegativemedullarythyroidcancer
AT shakiljawairia brafv600emutationinretnegativemedullarythyroidcancer

Ejemplares similares