Genetic Screening for AIP Mutations in Young Patients with Sporadic and Familial Pituitary Macroadenomas
Issue: 1/2011
Author: М. Yaneva, А. Elenkova, A. Daly, M. Tichomirowa, V. Bours, G. Kirilov, I. Atanasova, М. Мarinov, A. Beckers and S. Zacharieva
Abstract:
The pathophysiological mechanisms of triggering the process of tumorigenesis in patients with pituitary adenomas remain not clearly elucidated. A rising number of studies demonstrate the role of mutations in the AIP (aryl hydrocarbon receptor interacting protein) gene as predisposing factor for the development of pituitary adenoma in familial adenomas or less often in sporadic tumors.
The aim of our study was to assess the prevalence of AIP mutations in young patients with pituitary macroadenomas and in patients with familial pituitary adenomas.
A total of 50 subjects – 46 patients (24 women, 22 men) and 4 relatives of patients, carrier of AIP mutation, underwent genetic analysis. The mean age at diagnosis of the disease was 23,46. Twenty patients had prolactinoma, 18 – somatotropinoma, 3 – somatolactotropinoma and 5 patients were with pituitary incidentaloma.
The prevalence of AIP mutations in the studied patients was 8,7% (4/46). The prevalence In the group of apparently sporadic pituitary adenomas was estimated at 9,52% (4/42). The following mutations were described: pArg56Cys ex2; p.Glu82fs ex2; p.Arg16His ex1; F269F. Four patients had familial isolated pituitary adenomas (FIPA) of heterogeneous type. All studied patients from FIPA families were negative for AIP mutations (0% prevalence of AIP mutation).
In conclusion, the present study demonstrates the relatively low prevalence of AIP mutations in young patients with sporadic macroadenomas and familial pituitary adenomas.
