Division of Hematology-OncologyDepartment of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
Section on Endocrinology and Genetics The Eunice Kennedy Shriver Institute of Child Health and Human DevelopmentNational Institutes of Health, Bethesda, Maryland, USA.
Endocr Relat Cancer. 2018 Aug;25(8):T221-T244. doi: 10.1530/ERC-18-0160.
As medicine is poised to be transformed by incorporating genetic data in its daily practice, it is essential that clinicians familiarise themselves with the information that is now available from more than 50 years of genetic discoveries that continue unabated and increase by the day. Endocrinology has always stood at the forefront of what is called today 'precision medicine': genetic disorders of the pituitary and the adrenal glands were among the first to be molecularly elucidated in the 1980s. The discovery of two endocrine-related genes, and , both identified in the late 1980s, contributed greatly in the understanding of cancer and its progression. The use of mutation testing for the management of medullary thyroid cancer was among the first and one of most successful applications of genetics in informing clinical decisions in an individualised manner, in this case by preventing cancer or guiding the choice of tyrosine kinase inhibitors in cancer treatment. New information emerges every day in the genetics or system biology of endocrine disorders. This review goes over most of these discoveries and the known endocrine tumour syndromes. We cover key genetic developments for each disease and provide information that can be used by the clinician in daily practice.
随着医学在日常实践中准备纳入基因数据，临床医生必须熟悉从 50 多年来不断涌现且日益增多的遗传发现中获取的信息。内分泌学一直处于当今所谓的“精准医学”的前沿：20 世纪 80 年代，垂体和肾上腺的遗传疾病首先在分子水平上得到阐明。两个与内分泌相关的基因的发现， 和 ，均于 20 世纪 80 年代末被确定，对癌症及其进展的理解做出了巨大贡献。在以个体化方式告知临床决策方面，对甲状腺髓样癌进行 突变检测的应用是最早和最成功的遗传应用之一，在这种情况下，可以预防癌症或指导癌症治疗中酪氨酸激酶抑制剂的选择。内分泌疾病的遗传学或系统生物学每天都会有新信息出现。这篇综述涵盖了这些发现中的大部分，以及已知的内分泌肿瘤综合征。我们涵盖了每种疾病的关键遗传进展，并为临床医生在日常实践中提供了可用信息。
