Reference : Clinical characteristics and therapeutic responses in patients with Germ-line AIP mut...
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
http://hdl.handle.net/2268/67517
Clinical characteristics and therapeutic responses in patients with Germ-line AIP mutations and pituitary adenomas : An international collaborative study
English
Daly, Adrian [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
Tichomirowa, Maria A. [> >]
Petrossians, Patrick [Université de Liège - ULg > > Endocrinologie clinique >]
Heliövaara, Elina [> >]
Jaffrain-Rea, Marie-Lise [> >]
Barlier, Anne [> >]
Naves, Luciana A. [> >]
Ebeling, Tapani [> >]
Karhu, A. [> >]
Raapana, A. [> >]
Cazabat, Laure [> >]
De Menis, Ernesto [> >]
Montanana, Carmen Fajardo [> >]
Raverot, Gerald [> >]
Weil, Robert J [> >]
Sane, Timo [> >]
Maiter, Dominique [> >]
Neggers, Sebastian [> >]
Yaneva, Maria [> >]
Tabarin, Antoine [> >]
Verrua, Elisa [> >]
Eloranta, Eija [> >]
Murat, Arnaud [> >]
Vierimaa, Outi [> >]
Salmela, Pasi [> >]
Emy, Philippe [> >]
Toledo, Rodrigo [> >]
Sabate, Maria Isabel [> >]
Villa, Chiara [> >]
Popelier, Marc [> >]
Salvatori, Roberto [> >]
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, Vinciane [> >]
Hagelstein, Marie-Thérèse [Université de Liège - ULg > > Endocrinologie clinique >]
Vanbellinghen, Jean-François [Université de Liège - ULg > > Centre de diagnostic moleculaire >]
Barra, Gustavo Barcelos [> >]
Gimenez-Roqueplo, Anne-Paule [> >]
Cameron, F. [> >]
Borson-Chazot, F. [> >]
Holdaway, I. [> >]
Toledo, S. [> >]
Stalla, G. K. [> >]
Spada, Anna [> >]
Zacharieva, S. [> >]
Bertherat, J. [> >]
Brue, T. [> >]
Bours, Vincent [Université de Liège - ULg > > Génétique >]
Chanson, Philippe [> >]
Aaltonen, Lauri A [> >]
Beckers, Albert mailto [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
2010
Journal of Clinical Endocrinology and Metabolism
Endocrine Society
95
11
Yes (verified by ORBi)
International
0021-972X
Chevy Chase
MD
[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
[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.
<br />Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas.
<br />Design: This study was an international, multicenter, retrospective case collection/database analysis.
<br />Setting: The study was conducted at 36 tertiary referral endocrine and clinical genetics departments.
<br />Patients: Patients included 96 patients with germline AIPmut and pituitary adenomas and 232 matched AIPmut-negative acromegaly controls.
<br />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.
<br />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.
Researchers ; Professionals
http://hdl.handle.net/2268/67517
also: http://hdl.handle.net/2268/75367 ; http://hdl.handle.net/2268/71277
10.1210/jc.2009-2556

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