Genetics of Acromegaly and Gigantism.
Genetics of Acromegaly and Gigantism.
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DOI：
10.3390/jcm10071377
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发表时间：
2021-03-29
影响因子：
3.9
通讯作者：
Korbonits M
中科院分区：
文献类型：
--
作者：
Bogusławska A;Korbonits M
生长激素（GH）分泌型垂体瘤代表了最遗传决定的垂体瘤类型。这对于生殖系和体细胞突变都是正确的。生殖系突变发生在几个已知的基因（AIP，PRKAR1A，GPR101，GNAS，MEN1，CDKN1B，SDHx，MAX）以及目前未知基因的家族性病例中，而GNAS中的体细胞突变存在于高达40%的肿瘤中。如果疾病在骨骺融合之前开始，那么可以发展加速生长和最终身高增加，或发育不良，其中一半病例可以确定遗传背景。遗传性GH分泌性垂体腺瘤（PA）可表现为孤立性肿瘤、家族性孤立性垂体腺瘤（FIPA），包括AIP突变或GPR101重复（X连锁肢端肥大症，XLAG）病例，也可为全身性疾病的一部分，如多发性内分泌瘤1型或4型、McCune-Albright综合征、Carney综合征或嗜铬细胞瘤/副神经节瘤-垂体腺瘤相关性。家族史和寻找相关的综合征表现可以帮助引起对遗传原因的关注;其中许多现在作为基因组的一部分进行测试。识别基因突变可以适当筛查相关的合并症，并在疾病临床表现之前发现受影响的家庭成员。这篇综述主要集中在生殖细胞和体细胞突变诱发肢端肥大症和肥胖症。
Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (AIP, PRKAR1A, GPR101, GNAS, MEN1, CDKN1B, SDHx, MAX) as well as familial cases with currently unknown genes, while somatic mutations in GNAS are present in up to 40% of tumours. If the disease starts before the fusion of the epiphysis, then accelerated growth and increased final height, or gigantism, can develop, where a genetic background can be identified in half of the cases. Hereditary GH-secreting pituitary adenoma (PA) can manifest as isolated tumours, familial isolated pituitary adenoma (FIPA) including cases with AIP mutations or GPR101 duplications (X-linked acrogigantism, XLAG) or can be a part of systemic diseases like multiple endocrine neoplasia type 1 or type 4, McCune–Albright syndrome, Carney complex or phaeochromocytoma/paraganglioma-pituitary adenoma association. Family history and a search for associated syndromic manifestations can help to draw attention to genetic causes; many of these are now tested as part of gene panels. Identifying genetic mutations allows appropriate screening of associated comorbidities as well as finding affected family members before the clinical manifestation of the disease. This review focuses on germline and somatic mutations predisposing to acromegaly and gigantism.
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影响因子：
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