PMID- 33574795 OWN - NLM STAT- MEDLINE DCOM- 20210603 LR - 20210603 IS - 1664-2392 (Print) IS - 1664-2392 (Electronic) IS - 1664-2392 (Linking) VI - 11 DP - 2020 TI - Genetic and Epigenetic Causes of Pituitary Adenomas. PG - 596554 LID - 10.3389/fendo.2020.596554 [doi] LID - 596554 AB - Pituitary adenomas (PAs) can be classified as non-secreting adenomas, somatotroph adenomas, corticotroph adenomas, lactotroph adenomas, and thyrotroph adenomas. Substantial advances have been made in our knowledge of the pathobiology of PAs. To obtain a comprehensive understanding of the molecular biological characteristics of different types of PAs, we reviewed the important advances that have been made involving genetic and epigenetic variation, comprising genetic mutations, chromosome number variations, DNA methylation, microRNA regulation, and transcription factor regulation. Classical tumor predisposition syndromes include multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) syndromes, Carney complex, and X-LAG syndromes. PAs have also been described in association with succinate dehydrogenase-related familial PA, neurofibromatosis type 1, and von Hippel-Lindau, DICER1, and Lynch syndromes. Patients with aryl hydrocarbon receptor-interacting protein (AIP) mutations often present with pituitary gigantism, either in familial or sporadic adenomas. In contrast, guanine nucleotide-binding protein G(s) subunit alpha (GNAS) and G protein-coupled receptor 101 (GPR101) mutations can lead to excess growth hormone. Moreover, the deubiquitinase gene USP8, USP48, and BRAF mutations are associated with adrenocorticotropic hormone production. In this review, we describe the genetic and epigenetic landscape of PAs and summarize novel insights into the regulation of pituitary tumorigenesis. CI - Copyright (c) 2021 Chang, Yang, Bao and Wang. FAU - Chang, Mengqi AU - Chang M AD - Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China. FAU - Yang, Chengxian AU - Yang C AD - Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China. FAU - Bao, Xinjie AU - Bao X AD - Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China. FAU - Wang, Renzhi AU - Wang R AD - Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20210126 PL - Switzerland TA - Front Endocrinol (Lausanne) JT - Frontiers in endocrinology JID - 101555782 RN - 0 (Genetic Markers) SB - IM MH - Adenoma/*etiology/pathology MH - *Epigenesis, Genetic MH - *Gene Expression Regulation MH - *Genetic Markers MH - *Genetic Predisposition to Disease MH - Humans MH - *Mutation MH - Pituitary Neoplasms/*etiology/pathology PMC - PMC7870789 OTO - NOTNLM OT - Cushing's disease OT - acromegaly OT - molecular markers OT - non-secreting adenomas OT - pituitary adenomas COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2021/02/13 06:00 MHDA- 2021/06/04 06:00 PMCR- 2020/01/01 CRDT- 2021/02/12 06:07 PHST- 2020/08/19 00:00 [received] PHST- 2020/11/23 00:00 [accepted] PHST- 2021/02/12 06:07 [entrez] PHST- 2021/02/13 06:00 [pubmed] PHST- 2021/06/04 06:00 [medline] PHST- 2020/01/01 00:00 [pmc-release] AID - 10.3389/fendo.2020.596554 [doi] PST - epublish SO - Front Endocrinol (Lausanne). 2021 Jan 26;11:596554. doi: 10.3389/fendo.2020.596554. eCollection 2020.