An update on the genetics of pituitary growth hormone adenoma
10.3760/cma.j.cn311282-20210120-00042
- VernacularTitle:垂体生长激素腺瘤遗传学研究进展
- Author:
Hui MIAO
1
;
Huijuan ZHU
Author Information
1. 中国医学科学院北京协和医学院，北京协和医院内分泌科，卫健委内分泌重点实验室，国家罕见病重点实验室，转化医学中心 100730
- Keywords:
Pituitary growth hormone adenoma;
Growth hormone;
Gene;
Genetic variation
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(12):1121-1126
- CountryChina
- Language:Chinese
-
Abstract:
Pituitary growth hormone adenoma is a benign tumor in sellar region, which presents clinical manifestations of acromegaly or gigantism due to excessive secretion of growth hormone. With the development of genetic technology, a variety of genetic variations are identified being involved in the pathogenesis of growth hormone adenoma and their clinical phenotypes as well as treatment responses, which promotes precise diagnosis and management of pituitary growth hormone adenomas. Among somatic mutations, activating somatic mutations of GNAS can be found in 40% of growth hormone adenomas. Mosaic mutations of GNAS lead to McCune-Albright syndrome, and the most common pituitary features is excessive secretion of growth hormone. Germline mutations of aryl hydrocarbon receptor interacting protein (AIP) can be found in familial and sporadic growth hormone adenomas. AIP-mutated adenomas usually are early-onset macroadenoma with poor response to somatostatin therapy. Xq26.3 microduplication involving the gene GPR101 causes X-linked acrogigantism. Growth hormone adenoma can present as a sporadic solitary pituitary adenoma, or as a part of syndromic disease such as multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4), Carney syndrome, etc. This article summarized the progress of genetic research on growth hormone adenoma, to increase understanding of solitary and syndromic pituitary growth hormone adenomas, and promote further exploration of mechanism and potential therapy targets of pituitary growth hormone adenomas.
