| Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. | |
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MedLine Citation:
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PMID: 20685857 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-08-04 |
Journal Detail:
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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:
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Created Date: 2010-11-05 Completed Date: 2010-12-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: E373-83 Citation Subset: AIM; IM |
Affiliation:
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Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenoma
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genetics*,
pathology,
therapy Age Factors Dopamine Agonists / therapeutic use Female Germ-Line Mutation* Humans Male Pituitary Neoplasms / genetics*, pathology, therapy Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Dopamine Agonists |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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