Riassunto
Il 5% di tutti gli adenomi ipofisari ha una base eredo-familiare. Le forme più comuni sono la MEN1 e la FIPA, mentre più rare sono la Carney Complex e la MEN4. Nuovi geni, ad esempio AIP, sono risultati associati a queste forme genetiche. È necessario conoscere l’esistenza di forme familiari di adenomi ipofisari, il corretto iter diagnostico anche genetico, l’appropriato screening e follow-up dei familiari.
This is a preview of subscription content, log in via an institution to check access.
Bibliografia
Beckers A, Aaltonen LA, Daly AF, Karhu A 2013 Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev 34: 239–277.
Thakker RV, Newey PJ, Walls GV et al 2012 Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97: 2990–3011.
Verges B, Bourelle F, Goudet P et al 2002 Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab 87: 457–465.
Boikos SA, Stratakis CA 2007 Carney Complex: the first 20 years. Curr Opin Oncol 19: 24–29.
Daly AF, Jaffrain-Rea ML, Ciccarelli A et al 2006 Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab 91: 3316–3323.
Vierimaa O, Georgitsi M, Lehtonen R et al 2006 Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312: 1228–1230.
Daly AF, Tichomirowa MA, Petrossians P et al 2010 Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab 95: E373–E383.
Trivellin G, Korbonits M 2011 AIP and its interacting partners. J Endocrinol 210: 137–155.
Occhi G, Jaffrain-Rea ML, Trivellin G et al 2010 The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect?. J Endocrinol Invest 11: 800–805.
Pellegata NS, Quintanilla-Martinez L, Siggelkow H et al 2007 Germline mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 103: 15558–15563.
Agarwal SK, Mateo CM, Marx SJ 2009 Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 94: 1826–1834.
Xekouki P, Pacak K, Almeida M et al 2012 Succinate dehydrogenase (SDH) D subunit (SDHD) Inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?. J Clin Endocrinol Metab 97: E357–E366.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
De Menis, E., Sartorato, P. Gli adenomi ipofisari familiari. L’Endocrinologo 14, 190–194 (2013). https://doi.org/10.1007/BF03346094
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03346094