Genetics of adrenocortical tumours

J Intern Med. 2016 Dec;280(6):540-550. doi: 10.1111/joim.12452.


The recently available genomic sequencing techniques have led to breakthroughs in understanding of the underlying genetic mechanisms in adrenocortical tumours. Disease-causing mutations have been described for aldosterone-producing adenomas, cortisol-producing adenomas and adrenocortical carcinomas. Further, knowledge gained from transcriptome analyses and methylation arrays has provided new insights into the development of these tumours. Elucidation of the genomic landscape of adrenocortical tumours and improved techniques may in the future be useful for early diagnosis through the detection of mutated DNA in the circulation. Moreover, compounds that bind specifically to altered proteins may be used as screening targets or therapeutic agents. Regulation of cortisol release by interaction with an altered subunit in adenylate cyclase may be more complex, but may provide a new option for regulating steroid release. Information about derangements in adrenocortical carcinoma is already helpful for determining patient prognosis. With further knowledge, we may be able to identify novel biomarkers that effectively and noninvasively help in differentiating between benign and malignant disease. It is clear that the next few years will provide much novel information that hopefully will aid in the treatment of patients with adrenocortical tumours.

Keywords: Adrenal tumours; genetics.

Publication types

  • Review

MeSH terms

  • Adenoma / genetics
  • Adenoma / metabolism
  • Adrenal Cortex Neoplasms / genetics*
  • Carcinoma / genetics
  • DNA Mutational Analysis
  • Genomics
  • Glucocorticoids / metabolism
  • Humans
  • Hyperaldosteronism / genetics


  • Glucocorticoids