Genetic Aspects of Pituitary Adenomas

Pedro Marques; Márta Korbonits

doi:10.1016/j.ecl.2017.01.004

Genetic Aspects of Pituitary Adenomas

Endocrinol Metab Clin North Am. 2017 Jun;46(2):335-374. doi: 10.1016/j.ecl.2017.01.004. Epub 2017 Mar 18.

Authors

Pedro Marques¹, Márta Korbonits²

Affiliations

¹ Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
² Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK. Electronic address: m.korbonits@qmul.ac.uk.

PMID: 28476226
DOI: 10.1016/j.ecl.2017.01.004

Abstract

Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeutic responses, and their full understanding helps to provide appropriate care for these patients.

Keywords: AIP; Carney complex; FIPA; Genetics; MEN1; MEN4; Pituitary tumor; XLAG.

Publication types

Review

MeSH terms

Adenoma / genetics*
Humans
Mutation
Pituitary Gland / pathology
Pituitary Neoplasms / genetics*