ORBi: Daly Adrian - Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas

Reference : Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutati...


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Endocrinology, metabolism & nutrition
	To cite this reference:	http://hdl.handle.net/2268/67517

Title :	Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas - An International Collaborative Study
Language :	English
Author, co-author :	Daly, Adrian [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
	Tichomirowa, M. A. [> >]
	Petrossians, Patrick [Université de Liège - ULg > > Endocrinologie clinique >]
	Heliovaara, E. [> >]
	Jaffrain-Rea, M. L. [> >]
	Barlier, A. [> >]
	Naves, L. [> >]
	Ebeling, T. [> >]
	Karhu, A. [> >]
	Raapana, A. [> >]
	Cazabat, L. [> >]
	De Menis, E. [> >]
	Montanana, C. F. [> >]
	Raverot, G. [> >]
	Weil, R. J. [> >]
	Sane, T. [> >]
	Maiter, D. [> >]
	Neggers, S. [> >]
	Yaneva, M. [> >]
	Tabarin, A. [> >]
	Verrua, E. [> >]
	Eloranta, E. [> >]
	Murat, A. [> >]
	Vierimaa, O. [> >]
	Salmela, P. [> >]
	Emy, P. [> >]
	Toledo, R. [> >]
	Sabaté, M. [> >]
	Villa, C. [> >]
	Popelier, M. [> >]
	Salvatori, R. [> >]
	Jennings, J. [> >]
	Ferrandez Longas, A. [> >]
	Labarta Aizpun, J. [> >]
	Georgitsi, M. [> >]
	Pashke, R. [> >]
	Ronchi, C. [> >]
	Valimaki, M. [> >]
	Saloranta, C. [> >]
	De Herder, W. [> >]
	Cozzi, R. [> >]
	Guitelman, M. [> >]
	Magri, F. [> >]
	Lagonigro, M. S. [> >]
	Halaby, G. [> >]
	Corman, V. [> >]
	Haglestein, M. T. [> >]
	Vanbellinghen, Jean-François [Université de Liège - ULg > > Centre de diagnostic moleculaire >]
	Barra, G. B. [> >]
	Gimenez-Roqueplo, A. P. [> >]
	Cameron, F. [> >]
	Borson-Chazot, F. [> >]
	Holdaway, I. [> >]
	Toledo, S. [> >]
	Stalla, G. K. [> >]
	Spada, Alexandre [Université de Liège - ULg > > Interface Entreprises-Université >]
	Zacharieva, S. [> >]
	Bertherat, J. [> >]
	Brue, T. [> >]
	Bours, Vincent [Université de Liège - ULg > > Génétique >]
	Chanson, Philippe [> >]
	Aaltonen, Lauri A [> >]
	Beckers, Albert [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
Publication date :	Nov-2010
Journal title :	Journal of Clinical Endocrinology and Metabolism
Publisher :	Endocrine Society
Volume :	95
Issue/season :	11
Peer reviewed :	Yes (verified by ORBi)
Audience :	International
ISSN :	0021-972X
City :	Chevy Chase
Country :	MD
Keywords :	[en] FIPA ; Aryl hydrocarbon receptor ; AIP mutations ; Carney ; familial isolated pituitary adenomas ; multiple endocrine neoplasia ; MEN ; somatostatin analog ; limit of normal ; Clinical ; Characteristics ; Therapeutic ; Responses ; Patients ; Germ-Line ; AIP ; Mutations ; Pituitary ; Adenomas ; Study
Abstract :	[en] Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively. Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas. Design: This study was an international, multicenter, retrospective case collection/database analysis. Setting: The study was conducted at 36 tertiary referral endocrine and clinical genetics departments. Patients: Patients included 96 patients with germline AIPmut and pituitary adenomas and 232 matched AIPmut-negative acromegaly controls. Results: The AIPmut population was predominantly young and male (63.5%); first symptoms occurred as children/adolescents in 50%. At diagnosis, most tumors were macroadenomas (93.3%); extension and invasion was common. Somatotropinomas comprised 78.1% of the cohort; there were also prolactinomas (n = 13), nonsecreting adenomas (n = 7), and a TSH-secreting adenoma. AIPmut somatotropinomas were larger (P = 0.00026), with higher GH levels (P = 0.00068), more frequent extension (P = 0.018) and prolactin cosecretion (P = 0.00023), and occurred 2 decades before controls (P < 0.000001). Gigantism was more common in the AIPmut group (P < 0.000001). AIPmut somatotropinoma patients underwent more surgical interventions (P = 0.00069) and had lower decreases in GH (P = 0.00037) and IGF-I (P = 0.028) and less tumor shrinkage with somatostatin analogs (P < 0.00001) vs. controls. AIPmut prolactinomas occurred generally in young males and frequently required surgery or radiotherapy. Conclusions: AIPmut pituitary adenomas have clinical features that may negatively impact treatment efficacy. Predisposition for aggressive disease in young patients, often in a familial setting, suggests that earlier diagnosis of AIPmut pituitary adenomas may have clinical utility.
Target :	Researchers ; Professionals
Permalink :	http://hdl.handle.net/2268/67517
DOI :	10.1210/jc.2009-2556

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