Cushing syndrome: Old and new genes

Best Pract Res Clin Endocrinol Metab. 2020 Mar;34(2):101418. doi: 10.1016/j.beem.2020.101418. Epub 2020 Apr 2.

Abstract

Cushing syndrome (CS) describes the signs and symptoms caused by exogenous or endogenous hypercortisolemia. Endogenous CS is caused by either ACTH-dependent sources (pituitary or ectopic) or ACTH-independent (adrenal) hypercortisolemia. Several genes are currently known to contribute to the pathogenesis of CS. Germline gene defects, such as MEN1, AIP, PRKAR1A and others, often present in patients with pituitary or adrenal involvement as part of a genetic syndrome. Somatic defects in genes, such as USP8, TP53, and others, are also involved in the development of pituitary or adrenal tumors in a large percentage of patients with CS, and give insight in pathways involved in pituitary or adrenal tumorigenesis.

Keywords: Cushing; adrenal; gene; pituitary; tumor.

Publication types

  • Review

MeSH terms

  • Adrenal Gland Neoplasms / complications
  • Adrenal Gland Neoplasms / epidemiology
  • Adrenal Gland Neoplasms / genetics
  • Carcinogenesis / genetics
  • Carcinogenesis / pathology
  • Cushing Syndrome / epidemiology
  • Cushing Syndrome / genetics*
  • DNA Mutational Analysis* / methods
  • DNA Mutational Analysis* / trends
  • Genetic Association Studies / methods
  • Genetic Association Studies / trends
  • Genetic Predisposition to Disease
  • Germ-Line Mutation / physiology
  • Humans
  • Pituitary Neoplasms / complications
  • Pituitary Neoplasms / epidemiology
  • Pituitary Neoplasms / genetics
  • Signal Transduction / genetics