Genetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications

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

Abstract :

[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.

Disciplines :

Endocrinology, metabolism & nutrition

Author, co-author :

Jaffrain-Rea, Marie-Lise; University of L’Aquila

Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Angelini, Mariolina; University of L’Aquila

Petrossians, Patrick ; Université de Liège - ULiège > Endocrinologie clinique

Bours, Vincent ; Université de Liège - ULiège > Génétique

Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Language :

English

Title :

Genetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications

Publication date :

2011

Journal title :

Expert Review of Endocrinology and Metabolism

ISSN :

1744-6651

eISSN :

1744-8417

Publisher :

Future Medicine Ltd

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 06 September 2010

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