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A patient with RET D631Y mutation present with pheochromocytoma.

作者信息

Kim Jung Min

机构信息

Department of Internal Medicine Sanggye Paik Hospital Inje University College of Medicine Seoul Korea.

出版信息

Clin Case Rep. 2021 Jul 10;9(7):e04423. doi: 10.1002/ccr3.4423. eCollection 2021 Jul.

DOI:10.1002/ccr3.4423
PMID:34267909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8271257/
Abstract

Patients with MEN2A with RET D631Y mutation most commonly present with pheochromocytomas. MTC is a less common part of the syndrome. Therefore, MEN2A caused by the RET D631Y mutation would be a benign nature.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64f7/8271257/4aa640ce7269/CCR3-9-e04423-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64f7/8271257/4aa640ce7269/CCR3-9-e04423-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64f7/8271257/4aa640ce7269/CCR3-9-e04423-g002.jpg

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本文引用的文献

1
The importance of the RET gene in thyroid cancer and therapeutic implications.RET 基因在甲状腺癌中的重要性及其治疗意义。
Nat Rev Endocrinol. 2021 May;17(5):296-306. doi: 10.1038/s41574-021-00470-9. Epub 2021 Feb 18.
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Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.
D631Y RET 突变致多发性内分泌腺瘤 2A 一家系的临床特征
Thyroid. 2017 Oct;27(10):1332-1334. doi: 10.1089/thy.2016.0536. Epub 2017 Sep 5.
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Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.美国甲状腺协会修订的甲状腺髓样癌管理指南。
Thyroid. 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335.
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Eur J Endocrinol. 2013 Apr 15;168(5):683-7. doi: 10.1530/EJE-12-1106. Print 2013 May.
7
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.携带 RET D631Y 突变的患者最常表现为嗜铬细胞瘤，而不是甲状腺髓样癌。
Horm Metab Res. 2012 May;44(5):339-42. doi: 10.1055/s-0031-1295497. Epub 2012 Jan 24.
8
A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.两个患有多发性内分泌腺瘤病2A的韩裔家族中RET原癌基因罕见的细胞外D631Y种系突变。
Thyroid. 2006 Jun;16(6):609-14. doi: 10.1089/thy.2006.16.609.
9
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.2A型多发性内分泌腺瘤病中RET原癌基因的种系突变。
Nature. 1993 Jun 3;363(6428):458-60. doi: 10.1038/363458a0.
10
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.一种与2B型多发性内分泌腺瘤病和散发性甲状腺髓样癌相关的RET原癌基因突变。
Nature. 1994 Jan 27;367(6461):375-6. doi: 10.1038/367375a0.