Genetic Testing in Hereditary Pituitary Tumors

Gamze Akkuş; Márta Korbonits

doi:10.1016/j.arcmed.2023.102920

Genetic Testing in Hereditary Pituitary Tumors

Arch Med Res. 2023 Dec;54(8):102920. doi: 10.1016/j.arcmed.2023.102920. Epub 2023 Nov 24.

Authors

Gamze Akkuş¹, 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, London, UK.
² Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address: m.korbonits@qmul.ac.uk.

PMID: 38007383
DOI: 10.1016/j.arcmed.2023.102920

Abstract

Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we summerise germline genetic alterations in patients with pituitary neuroendocrine tumors (pituitary adenomas). These may be disorders with isolated pituitary tumors, such as X-linked acrogigantism, or AIP-related pituitary tumors, or as part of syndromic diseases, such as multiple endocrine neoplasia type 1 or Carney complex. In some cases, this could be relevant for treatment choices and follow-up, as well as for family members, as cascade screening leads to early identification of affected relatives and improved clinical outcomes.

Keywords: AIP; Carney complex; GPR101; Genetic testing; IGSF1; Lynch syndrome; MEN1; PitNETs; Pituitary adenomas; XLAG.

Publication types

Review

MeSH terms

Adenoma* / diagnosis
Adenoma* / genetics
Adenoma* / pathology
Genetic Testing
Humans
Mutation
Pituitary Neoplasms* / diagnosis
Pituitary Neoplasms* / genetics
Pituitary Neoplasms* / pathology