Article (Scientific journals)
Clinical characteristics and therapeutic responses in patients with Germ-line AIP mutations and pituitary adenomas : An international collaborative study
Daly, Adrian; Tichomirowa, Maria A.; Petrossians, Patrick et al.
2010In Journal of Clinical Endocrinology and Metabolism, 95 (11)
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Keywords :
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. <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.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Daly, Adrian  ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Tichomirowa, Maria A.
Petrossians, Patrick  ;  Université de Liège - ULiège > Endocrinologie clinique
Heliövaara, Elina
Jaffrain-Rea, Marie-Lise
Barlier, Anne
Naves, Luciana Ansaneli
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 - ULiège > Endocrinologie clinique
Vanbellinghen, Jean-François ;  Université de Liège - ULiège > 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 - ULiège > Génétique
Chanson, Philippe
Aaltonen, Lauri A
Beckers, Albert ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
More authors (53 more) Less
Language :
English
Title :
Clinical characteristics and therapeutic responses in patients with Germ-line AIP mutations and pituitary adenomas : An international collaborative study
Publication date :
2010
Journal title :
Journal of Clinical Endocrinology and Metabolism
ISSN :
0021-972X
eISSN :
1945-7197
Publisher :
Endocrine Society, Chevy Chase, United States - Maryland
Volume :
95
Issue :
11
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 30 July 2010

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