Substantial advances have been made recently in the pathobiology of pituitary tumors. Similar to many other endocrine tumors, over the last few years we have recognized the role of germline and somatic mutations in a number of syndromic or nonsyndromic conditions with pituitary tumor predisposition. These include the identification of novel germline variants in patients with familial or simplex pituitary tumors and establishment of novel somatic variants identified through next generation sequencing. Advanced techniques have allowed the exploration of epigenetic mechanisms mediated through DNA methylation, histone modifications and noncoding RNAs, such as microRNA, long noncoding RNAs and circular RNAs. These mechanisms can influence tumor formation, growth, and invasion. While genetic and epigenetic mechanisms often disrupt similar pathways, such as cell cycle regulation, in pituitary tumors there is little overlap between genes altered by germline, somatic, and epigenetic mechanisms. The interplay between these complex mechanisms driving tumorigenesis are best studied in the emerging multiomics studies. Here, we summarize insights from the recent developments in the regulation of pituitary tumorigenesis.

中文翻译：

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对垂体肿瘤发生的新见解：遗传和表观遗传机制。


最近垂体肿瘤的病理学取得了实质性进展。与许多其他内分泌肿瘤类似，在过去几年中，我们已经认识到种系和体细胞突变在许多具有垂体肿瘤倾向的综合征或非综合征病症中的作用。这些包括在家族性或单纯性垂体瘤患者中鉴定新的种系变异，以及通过下一代测序鉴定出新的体细胞变异。先进的技术允许探索通过 DNA 甲基化、组蛋白修饰和非编码 RNA（例如 microRNA、长非编码 RNA 和环状 RNA）介导的表观遗传机制。这些机制可以影响肿瘤的形成、生长和侵袭。虽然遗传和表观遗传机制经常破坏类似的途径，例如细胞周期调节，但在垂体肿瘤中，种系、体细胞和表观遗传机制改变的基因之间几乎没有重叠。这些驱动肿瘤发生的复杂机制之间的相互作用在新兴的多组学研究中得到了最好的研究。在这里，我们总结了垂体肿瘤发生调控的最新进展。