AIP mutations in young macroadenoma patients

AIP mutations cause aggressive pituitary adenomas in young patients. AIP mutations occur infrequently in unselected populations of patients with sporadic pituitary tumours, in children with sporadic pituitary adenomas or Cushing’s disease or in specific sporadic tumour types (e.g. acromegaly). Although the prevalence of AIP mutations in pituitary adenoma patients appears to be low, studies have not addressed prevalence in the most clinically, relevant population. Tichomirowa et al. undertook an international, multicentre, prospective genetic and clinical analysis at 21 tertiary referral endocrine departments to determine the frequency of AIP mutations in patients with sporadic pituitary macroadenomas that occurred before the age of 30 and in whom no other genetic cause of familial isolated pituitary adenoma was present. They included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype in their study.

They found the incidence of AIP mutations to be 11.7% in the entire cohort and 20.5% in patients aged less than 18 years of age. They recommend that AIP mutation testing in this population should be considered in order to optimise clinical genetic investigation and management. Tichomirowa et al. (2011) European Journal of Endocrinology 165 509-515.

Read the full article at: DOI:10.1530/EJE-11-0304.