多发性内分泌肿瘤 1 型、2A 型和 2B 型。

IF 4.1 4区医学 Q1 MEDICINE, GENERAL & INTERNAL Primary Care Pub Date : 2024-09-01 Epub Date: 2024-05-23 DOI:10.1016/j.pop.2024.03.006

Leslie A. Greenberg MD, FAAFP

引用次数: 0

摘要

多发性内分泌肿瘤 1 型是一种罕见的遗传性神经内分泌综合征，由超过 1500 种不同的种系突变引起。它可导致 20 种不同的内分泌肿瘤，主要影响甲状旁腺、胃肠胰道和垂体前叶。多发性内分泌瘤病 2A 型（MEN2A）和多发性内分泌瘤病 2B 型（MEN2B）是常染色体显性遗传综合征，原因是 "转染过程中重排"（RET）原癌基因的种系变异。常见的 RET 基因突变会导致受体过度活化，并诱导下游信号，从而导致肿瘤发生。MEN2A 的常见疾病有甲状腺髓样癌 (MTC)、嗜铬细胞瘤和原发性甲状旁腺功能亢进症。MEN2B的常见疾病包括MTC、嗜铬细胞瘤和良性神经节瘤。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Primary Care 医学-医学：内科

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Primary Care: Clinics in Office Practice updates you on the latest trends in patient management, keeps you up to date on the newest advances, and provides a sound basis for choosing treatment options. Each quarterly issue (March, June, September, and December) focuses on a single topic in primary care. Topics covered include allergy and immunology, cardiology, adolescent health, endocrinology, ENT, gastroenterology, geriatrics, hematology/oncology, infectious disease, gynecology and women''s health, nephrology, neurology, orthopedics/sports medicine, pediatrics, preventive medicine, psychiatry, rheumatology, and urology.

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