Update on the Genetics of Pituitary Tumors

Endocrinol Metab Clin North Am. 2020 Sep;49(3):433-452. doi: 10.1016/j.ecl.2020.05.005.

Abstract

Pituitary adenomas are common intracranial neoplasms, with diverse phenotypes. Most of these tumors occur sporadically and are not part of genetic disorders. Over the last decades numerous genetic studies have led to identification of somatic and germline mutations associated with pituitary tumors, which has advanced the understanding of pituitary tumorigenesis. Exploring the genetic background of pituitary neuroendocrine tumors can lead to early diagnosis associated with better outcomes, and their molecular mechanisms should lead to novel targeted therapies even for sporadic tumors. This article summarizes the genes and the syndromes associated with pituitary tumors.

Keywords: AIP; Acromegaly; FIPA; Genetic testing; MEN1; Pituitary adenomas; Prolactinoma.

Publication types

  • Review

MeSH terms

  • Adenoma / diagnosis
  • Adenoma / epidemiology
  • Adenoma / genetics
  • Adenoma / therapy
  • Carcinogenesis / genetics*
  • Early Detection of Cancer / methods
  • Early Detection of Cancer / trends
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Multiple Endocrine Neoplasia Type 1 / diagnosis
  • Multiple Endocrine Neoplasia Type 1 / genetics
  • Multiple Endocrine Neoplasia Type 1 / therapy
  • Neuroendocrine Tumors / diagnosis
  • Neuroendocrine Tumors / epidemiology
  • Neuroendocrine Tumors / genetics
  • Neuroendocrine Tumors / therapy
  • Pituitary Gland / metabolism
  • Pituitary Gland / pathology*
  • Pituitary Neoplasms / diagnosis
  • Pituitary Neoplasms / epidemiology
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / therapy
  • Syndrome
  • Treatment Outcome