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Updated: Mar 2, 2026

Endoscopic Endonasal Trans-sphenoidal Approach: Minimally Invasive Surgery for Pituitary Adenomas
Published on: January 17, 2018
Genetics of pituitary adenomas
Mario Shaid1, Márta Korbonits1
1Department of Endocrinology, St. Bartholomew's Hospital, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, United Kingdom.
Abstract:
Clinically relevant pituitary tumors presenting with altered hormonal secretion or mass effect represent a significant proportion of patients in endocrinology clinics. However, in recent years, these patients are also referred to clinical genetic services due to possible germline mutations causing syndromic or isolated pituitary adenomas. While somatic mutations have been identified in GNAS, USB8, PIK3CA, GPR101 and rarely in RAS, germline mutations have been identified in MEN1, cyclin dependent kinase inhibitor genes, AIP, DICER1, PRKAR1A, PRKACA, SDH genes and GPR101. In this review, we present a short overview of pituitary adenoma classifications, pituitary development and somatic and germline genetic changes identified in these adenomas.
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