دورية أكاديمية
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.
| العنوان: | High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. |
|---|---|
| المؤلفون: | Tichomirowa, Maria A, Barlier, Anne, Daly, Adrian, Jaffrain-Rea, Marie*-Lise, Ronchi, Cristina, Yaneva, Maria, Urban, Jonathan D, PETROSSIANS, Patrick, Elenkova, Atanaska, Tabarin, Antoine, Desailloud, Rachel, Maiter, Dominique, Schurmeyer, Thomas, Cozzi, Renato, Theodoropoulou, Marily, Sievers, Caroline, Bernabeu, Ignacio, Naves, Luciana Ansaneli, Chabre, Olivier, Montanana, Carmen Fajardo, Hana, Vaclav, Halaby, Georges, Delemer, Brigitte, Aizpun, Jose Ignacio Labarta, Sonnet, Emmanuel, Longas, Angel Ferrandez, HAGELSTEIN, Marie-Thérèse, Caron, Philippe, Stalla, Gunter K, Bours, Vincent, Zacharieva, Sabina, Spada, Anna, Brue, Thierry, Beckers, Albert |
| المصدر: | European Journal of Endocrinology, 165 (4), 509-15 (2011) |
| بيانات النشر: | BioScientifica Ltd, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Adult, DNA/genetics, Female, Genetic Testing, Humans, Intracellular Signaling Peptides and Proteins/genetics, Magnetic Resonance Imaging, Male, Mutation/physiology, Pituitary Neoplasms/epidemiology/genetics/pathology, Polymorphism, Single Nucleotide, Prospective Studies, Young Adult, Life sciences, Genetics & genetic processes, Human health sciences, Endocrinology, metabolism & nutrition, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition |
| الوصف: | BACKGROUND: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. METHODS: We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at <30 years of age. RESULTS: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary adenoma patients. Large genetic deletions were not seen using multiplex ligation-dependent probe amplification. Familial screening was possible in the relatives of seven patients with AIPmut and carriers were found in six of the seven families. In total, pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas. CONCLUSION: Germline AIPmut occur in 11.7% of patients <30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients. AIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501 article peer reviewed |
| اللغة: | English |
| Relation: | urn:issn:0804-4643; urn:issn:1479-683X |
| DOI: | 10.1530/EJE-11-0304 |
| URL الوصول: | https://orbi.uliege.be/handle/2268/99214 |
| حقوق: | open access http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess |
| رقم الأكسشن: | edsorb.99214 |
| قاعدة البيانات: | ORBi |
| DOI: | 10.1530/EJE-11-0304 |
|---|