肢端肥大症的遗传和表观遗传发病机制
Genetic and Epigenetic Pathogenesis of Acromegaly.
作者信息
Yamamoto Masaaki, Takahashi Yutaka
机构信息
Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Department of Diabetes and Endocrinology, Nara Medical University, Kashihara 634-8521, Japan.
出版信息
Cancers (Basel). 2022 Aug 10;14(16):3861. doi: 10.3390/cancers14163861.
Acromegaly is caused by excessive secretion of GH and IGF-I mostly from somatotroph tumors. Various genetic and epigenetic factors are involved in the pathogenesis of somatotroph tumors. While somatic mutations of are the most prevalent cause of somatotroph tumors, germline mutations in various genes (, , , , , , , ) are also known as the cause of somatotroph tumors. Moreover, recent findings based on multiple perspectives of the pangenomic approach including genome, transcriptome, and methylome analyses, histological characterization, genomic instability, and possible involvement of miRNAs have gradually unveiled the whole landscape of the underlying mechanisms of somatotroph tumors. In this review, we will focus on the recent advances in genetic and epigenetic pathogenesis of somatotroph tumors.
肢端肥大症主要由生长激素（GH）和胰岛素样生长因子-I（IGF-I）过度分泌引起，这些激素大多来自生长激素细胞肿瘤。多种遗传和表观遗传因素参与了生长激素细胞肿瘤的发病机制。虽然 的体细胞突变是生长激素细胞肿瘤最常见的原因，但各种基因（ 、 、 、 、 、 、 、 ）中的种系突变也被认为是生长激素细胞肿瘤的病因。此外，基于全基因组方法从多个角度进行的最新研究发现，包括基因组、转录组和甲基化组分析、组织学特征、基因组不稳定性以及微小RNA（miRNA）可能的参与，逐渐揭示了生长激素细胞肿瘤潜在机制的全貌。在这篇综述中，我们将重点关注生长激素细胞肿瘤遗传和表观遗传发病机制的最新进展。
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