Document Detail

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
MedLine Citation:
PMID:  20685857     Owner:  NLM     Status:  MEDLINE    
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.
Adrian F Daly; Maria A Tichomirowa; Patrick Petrossians; Elina Heliövaara; Marie-Lise Jaffrain-Rea; Anne Barlier; Luciana A Naves; Tapani Ebeling; Auli Karhu; Antti Raappana; Laure Cazabat; Ernesto De Menis; Carmen Fajardo Montañana; Gerald Raverot; Robert J Weil; Timo Sane; Dominique Maiter; Sebastian Neggers; Maria Yaneva; Antoine Tabarin; Elisa Verrua; Eija Eloranta; Arnaud Murat; Outi Vierimaa; Pasi I Salmela; Philippe Emy; Rodrigo A Toledo; Maria Isabel Sabaté; Chiara Villa; Marc Popelier; Roberto Salvatori; Juliet Jennings; Angel Ferrandez Longás; José Ignacio Labarta Aizpún; Marianthi Georgitsi; Ralf Paschke; Cristina Ronchi; Matti Valimaki; Carola Saloranta; Wouter De Herder; Renato Cozzi; Mirtha Guitelman; Flavia Magri; Maria Stefania Lagonigro; Georges Halaby; Vinciane Corman; Marie-Thérèse Hagelstein; Jean-François Vanbellinghen; Gustavo Barcelos Barra; Anne-Paule Gimenez-Roqueplo; Fergus J Cameron; Françoise Borson-Chazot; Ian Holdaway; Sergio P A Toledo; Günter K Stalla; Anna Spada; Sabina Zacharieva; Jerome Bertherat; Thierry Brue; Vincent Bours; Philippe Chanson; Lauri A Aaltonen; Albert Beckers
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-04
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  95     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-11-05     Completed Date:  2010-12-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  E373-83     Citation Subset:  AIM; IM    
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
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MeSH Terms
Adenoma / genetics*,  pathology,  therapy
Age Factors
Dopamine Agonists / therapeutic use
Germ-Line Mutation*
Pituitary Neoplasms / genetics*,  pathology,  therapy
Treatment Outcome
Reg. No./Substance:
0/Dopamine Agonists

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