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Submitted on December 7, 2006
Accepted on February 5, 2007
Department of Endocrinology (T.B., A.B.), Centre Hospitalier Universitaire Timone, 13385 Marseille Cedex 5, France; Laboratory of Biochemistry and Molecular Biology (M.S. A.E., A.B.), Centre Hospitalier Universitaire Conception, 13385 Marseille Cedex 5, France; and Laboratory Interactions Cellulaires Neuroendocriniennes (A.E., T.B., A.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche 6544, Institut Fédératif Jean Roche, Faculté de Médecine, Université de la Méditerranée, 13916 Marseille Cedex 20, France.; Departments of Molecular Genetics (J-F.V.B., V.B.) and Endocrinology (A.F.D., G.T., A.B.), Centre Hospitalier Universitaire de Liège, University of Liège, 4000 Liège, Belgium; Department of Experimental Medicine (M-L.J-R.), University of L'Aquila, and Neuromed, Istituto di Ricovero e Cura a Carattere Scientifico, 86077 Pozzili, Italy.; Laboratory of Histology and Molecular Embryology (J.T.), INSERM U433, Faculty of Medicine Lyon-RTH Laennec, 69372 Lyon Cedex 08, France.; Service d'Endocrinologie (L.C.), Hôpital Cochin et INSERM U567, Paris, France
* To whom correspondence should be addressed. E-mail: albert.beckers{at}chu.ulg.ac.be.
Context: Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein gene are not involved in sporadic pituitary tumorigenesis. Multiple novel mutations of this gene have since been identified in familial isolated pituitary adenoma cohorts.
Objective: To undertake full AIP coding sequence screening to assess for the presence of germline and somatic mutations in subjects with sporadic pituitary tumors from the European Union.
Design: Analysis of DNA from peripheral blood lymphocytes and analysis of exons 1-6 and para-exonic intron sequences of AIP. Multiplex ligation-dependent probe amplification was used to screen separate sporadic pituitary tumor tissue samples for discrete and extensive deletions or mutations of the AIP gene.
Setting: University tertiary referral Clinical Genetics, Molecular Biology and Endocrinology Departments.
Results: In 107 patients (prolactinomas (n=49), non-functioning tumors (n=29), somatotropinomas (n=26), ACTH-secreting tumors (n=2), TSH-secreting tumors (n=1)) no germline mutations of AIP were demonstrated. Among a group of 41 tumor samples from other subjects, a novel AIP mutation (R22X) was found in one sample in which the corresponding allele was deleted; follow-up screening of the patient demonstrated a germline R22X AIP mutation.
Conclusions: AIP mutations do not appear to play a prominent role in sporadic pituitary tumorigenesis in this population of European subjects.
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