Pituitary adenomas

Definition:

Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial disturbances due to mass effect. The tumor can be clinically nonfunctioning or hormone secreting. Among the latter, prolactin (PRL) and growth hormone (GH)-secreting adenomas are the most common. The majority of pituitary adenomas arise sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4).

References:

[1]. Andrew V Uzilov, et al. Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001602. [Content Brief]

[2]. E A Williamson, et al. G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Eur J Clin Invest. 1995 Feb;25(2):128-31. [Content Brief]

[3]. Francisca Caimari, et al. Novel Genetic Causes of Pituitary Adenomas. Clin Cancer Res. 2016 Oct 15;22(20):5030-5042. [Content Brief]

[4]. Giampaolo Trivellin, et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18;371(25):2363-74. [Content Brief]

[5]. L S Kirschner, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. [Content Brief]

[6]. M A Tichomirowa, et al. Familial pituitary adenomas. J Intern Med. 2009 Jul;266(1):5-18. [Content Brief]

[7]. Martin Reincke, et al. Mutations in the deubiquitinase gene USP8 cause Cushing's disease. Nat Genet. 2015 Jan;47(1):31-8. [Content Brief]

[8]. Natalia S Pellegata, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15558-63. [Content Brief]

[9]. Outi Vierimaa, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006 May 26;312(5777):1228-30. [Content Brief]

[10]. Qi Xiong, et al. Gene mutations in Cushing's disease. Biomed Rep. 2016 Sep;5(3):277-282. [Content Brief]

[11]. Qilin Zhang, et al. Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. Am J Hum Genet. 2017 May 4;100(5):817-823. [Content Brief]

[12]. S C Chandrasekharappa, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7. [Content Brief]

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