多发性内分泌肿瘤：更新。

Multiple endocrine neoplasia: an update.

机构信息

Department of Endocrinology and Diabetes, Royal North Shore Hospital, Sydney, New South Wales, Australia.

Cancer Genetics Unit, Kolling Institute, Sydney, New South Wales, Australia.

出版信息

Intern Med J. 2019 Aug;49(8):954-961. doi: 10.1111/imj.14394.

DOI:10.1111/imj.14394

PMID:31387156

Abstract

The multiple endocrine neoplasia (MEN) syndromes include MEN1, MEN2 (formerly MEN2A), MEN3 (formerly MEN2B) and the recently identified MEN4. Clinical presentations are varied and often relate to the overproduction of specific hormones. Understanding the genetics of each syndrome assists in determining screening timelines. Treatments for each manifestation are dependent on location, risk of recurrence or malignancy, hormone excess and surgical morbidity. Multidisciplinary management should include geneticists, genetic counsellors, endocrinologists and endocrine surgeons.

摘要

多发性内分泌腺瘤（MEN）综合征包括 MEN1、MEN2（以前称为 MEN2A）、MEN3（以前称为 MEN2B）和最近确定的 MEN4。临床表现多种多样，通常与特定激素的过度产生有关。了解每种综合征的遗传学有助于确定筛查时间安排。每种表现的治疗取决于位置、复发或恶性风险、激素过多和手术发病率。多学科管理应包括遗传学家、遗传咨询师、内分泌学家和内分泌外科医生。