Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment

Overview

Journal Eur Thyroid J

Specialties Endocrinology
Oncology

Date 2015 Mar 12

PMID 25759805

Citations 3

Authors

Minoru Kihara

Akira Miyauchi

Hiroshi Yoshida

Osamu Yamada

Hiroo Masuoka

Tomonori Yabuta

Takuya Higashiyama

Mitsuhiro Fukushima

Yasuhiro Ito

Kaoru Kobayashi

Akihiro Miya

Affiliations

Soon will be listed here.

Abstract

A family with germline tandem V804M/Y806C mutations in the RET proto-oncogene was reported. The in vitro study results showing that these mutations were on the same allele and that RET with these mutations had a moderate transforming activity were confirmed by the clinical features of the offspring as a natural experiment. Thus, the tandem double RET mutations are pathogenetic for MEN 2B.

Citing Articles

MEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW.

Keskin C, Canpolat A, Canlar S, Bahcecioglu Mutlu A, Erdogan M Acta Endocrinol (Buchar). 2023; 19(2):260-266.

PMID: 37908885 PMC: 10614576. DOI: 10.4183/aeb.2023.260.

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Yang Z, Qi X, Gross N, Kou X, Bai Y, Feng Y J Cell Mol Med. 2020; 24(22):13163-13170.

PMID: 32989896 PMC: 7701567. DOI: 10.1111/jcmm.15922.

Static Prognostic Factors and Appropriate Surgical Designs for Patients with Medullary Thyroid Carcinoma: The Second Report from a Single-Institution Study in Japan.

Ito Y, Miyauchi A, Kihara M, Higashiiyama T, Fukushima M, Miya A World J Surg. 2018; 42(12):3954-3966.

PMID: 30051240 PMC: 6244981. DOI: 10.1007/s00268-018-4738-z.

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