[Genetic screening for mutations enables early diagnosis of pituitary adenomas]

Ugeskr Laeger. 2014 Jan 6;176(1):54-7.
[Article in Danish]

Abstract

Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Acromegaly / genetics
  • Acromegaly / pathology
  • Adenoma / genetics*
  • Adenoma / pathology
  • Early Detection of Cancer
  • Genetic Testing
  • Growth Hormone-Secreting Pituitary Adenoma / genetics*
  • Growth Hormone-Secreting Pituitary Adenoma / pathology
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation
  • Pedigree
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / pathology

Substances

  • Intracellular Signaling Peptides and Proteins
  • aryl hydrocarbon receptor-interacting protein