A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer-Reference-Cited by-同舟云学术

A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer

Published:2020-03-10 Issue: Volume:2020 Page:1-4
ISSN:2090-6501
Container-title:Case Reports in Endocrinology
language:en
Short-container-title:Case Reports in Endocrinology

Author:

Robbins Richard J.¹^ORCID,Thomas Jessica S.¹²,Osuna Patricia Mejia¹,Shakil Jawairia³

Affiliation:

1. Weill Cornell Medicine, New York, NY, USA

2. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA

3. Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, TX, USA

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.

Funder

U.S. Centers for Medicare & Medicaid Services

Publisher

Hindawi Limited

Subject

Endocrinology, Diabetes and Metabolism

Link

http://downloads.hindawi.com/journals/crie/2020/7641940.pdf

Reference9 articles.

1. Clinical significance of RET and RAS mutations in sporadic medullary thyroid carcinoma: a meta-analysis

2. BRAF T1796A Transversion Mutation in Various Thyroid Neoplasms

3. Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer Patients

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1. Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET;Cancers;2023-10-05

2. Integrated proteogenomic characterization of medullary thyroid carcinoma;Cell Discovery;2022-11-08