Young patients with sporadic macroadenomas as target population for AIP mutations screening
Maria Tichomirowa1, Anne Barlier2, Adrian Daly1, Marie-Lise Jaffrain-Rea3, Renato Cozzi4, Maria Yaneva5, Luciana Naves6, Christina Ronchi7, Caroline Sievers8, Dominique Maiter9, Carmen Fajardo Montañana10, Sabine Zacharieva5 & Albert Beckers1
Methods: We undertook an assessment of patients which were diagnosed with or had their first symptoms of pituitary tumor before the age of 30 and had tumor diameter more than 1 cm without familial history of pituitary adenomas. In patients that consented to genetic analysis, germline mutations in the AIP gene were sought.
Results: The study population consisted of 164 patients (61 prolactinomas, 84 somatotropinomas, 16 non-secreting tumors, two patients with Cushing disease and one TSH-oma). In general we have diagnosed 28 AIP variations (17%) and 17 variations we supposed being pathogenic (10.4%) in 164 young patients with pituitary macroadenomas. In 84 acromegalic patients we have identified ten distinct pathogenic mutations in 11 patients (13%). In 61 subjects with macroprolactinomas we have identified 8 variations in AIP gene and five mutations or (8.2%) we presumed as pathogenic. We found one novel mutation out of 14 nonsecreting tumors which comprise 7.1%.
Conclusion: Screening of young patients with large pituitary adenomas for germline AIP mutations were positive in 10.4% of cases.