Reference : Genetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
http://hdl.handle.net/2268/71282
Genetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications
English
Jaffrain-Rea, Marie-Lise [University of L’Aquila > >]
Daly, Adrian mailto [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
Angelini, Mariolina [University of L’Aquila > >]
Petrossians, Patrick mailto [Université de Liège - ULg > > Endocrinologie clinique >]
Bours, Vincent mailto [Université de Liège - ULg > > Génétique >]
Beckers, Albert mailto [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
2011
Expert Review of Endocrinology & Metabolism
Future Medicine Ltd
Yes (verified by ORBi)
International
1744-6651
[en] Pituitary adenoma ; familial isolated pituitary adenomas ; FIPA ; Aryl hydrocarbon receptor Interacting Protein ; AIP ; Multiple Endocrine Neoplasia type 1 ; MEN1 ; Carney complex ; McCune Albright syndrome ; hereditary neoplasia ; genetic screening
[en] Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a variety of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the
presence of specific clinical settings, such as familial occurrence of PA, with or without extrapituitary diseases, and may also be suspected in young patients with macroadenomas. We
<br />review the clinical implications of genetic predisposition, with special attention to Multiple Endocrine Neoplasia type 1 (MEN1), Carney’s complex (CNC) and FIPA (Familial Isolated Pituitary Adenoma), and the scenario of genetic screening in selected patients with an apparently sporadic disease is discussed.
Researchers ; Professionals
http://hdl.handle.net/2268/71282
also: http://hdl.handle.net/2268/73444

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