ECE2010 Oral Communications Pituitary (6 abstracts)
Young patients with sporadic macroadenomas as target population for AIP mutations screening
Maria Tichomirowa 1 , Anne Barlier 2 , Adrian Daly 1 , Marie-Lise Jaffrain-Rea 3 , Renato Cozzi 4 , Maria Yaneva 5 , Luciana Naves 6 , Christina Ronchi 7 , Caroline Sievers 8 , Dominique Maiter 9 , Carmen Fajardo Montañana 10 , Sabine Zacharieva 5 & Albert Beckers 1
1University of Liege, Liege, Belgium; 2Université de la Méditerranée, Marseille, France; 3University of L’Aquila, Pozzili, Italy; 4Ospedale Niguarda, Milan, Italy; 5Clinical Center of Endocrinology and Gerontology, Sofia, Bulgaria; 6University of Brasilia, Brasilia, Brazil; 7Fondazione IRCCS Osp. Maggiore Policlinico Mangiagalli Regina Elena, Milan, Italy; 8Max-Planck Institute for Psychitry, Munich, Germany; 9St Luc University Hospital, Brussel, Belgium; 10Hospital Universitario de la Ribera, Valencia, Spain.
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.
Volume 22
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Endocrine Abstracts
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