Department of Surgery and Stanford Cancer Institute, Stanford University School of Medicine, CA.
Department of Medicine, Division of Endocrinology, Stanford University School of Medicine, CA.
Surgery. 2020 Aug;168(2):328-334. doi: 10.1016/j.surg.2020.03.009. Epub 2020 May 4.
Recent innovations in molecular and genetic diagnostic techniques have led to rapid advances in genomic medicine and their application to the clinic. The identification and classification of various genetic associations, syndromes, and susceptibility genes in endocrine surgical disorders are increasingly relevant to patient care. Hereditary endocrine disorders represent a significant proportion of disease encountered by endocrine surgeons. Hence, genetic testing has emerged as an important adjunct for the diagnosis and management of patients with endocrine surgical disorders. This article summarizes commonly encountered inherited endocrine disorders and their tumor susceptibility genes, with a focus on the clinical utility of genetic testing and its impact on the surgical management of endocrine disorders.
近年来，分子和遗传诊断技术的创新使得基因组医学取得了快速进展，并将其应用于临床实践。在内分泌外科疾病中，各种遗传关联、综合征和易感基因的鉴定和分类与患者的治疗越来越相关。遗传性内分泌疾病在内分泌外科医生所遇到的疾病中占很大比例。因此，基因检测已成为内分泌外科疾病患者诊断和治疗的重要辅助手段。本文总结了常见的遗传性内分泌疾病及其肿瘤易感性基因，重点介绍了基因检测的临床应用及其对内分泌疾病手术管理的影响。
