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Mutations in the Aryl Hydrocarbon Receptor Interacting Protein Gene Are Not Highly Prevalent among Subjects with Sporadic Pituitary Adenomas

Department of Endocrinology (T.B., A.Ba.), Centre Hospitalier Universitaire Timone, and Laboratory of Biochemistry and Molecular Biology (M.S., A.E., A.Ba.), Centre Hospitalier Universitaire Conception, 13385 Marseille Cedex 5, France; Laboratoire Interactions Cellulaires Neuroendocriniennes (A.E., T.B., A.Ba.), 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., V.B.) and Endocrinology (A.F.D., G.T., A.Be.), 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.), Institut National de la Santé et de la Recherche Médicale U433, Faculty of Medicine Lyon-RTH Laennec, 69372 Lyon Cedex 08, France; and Service d’Endocrinologie (L.C.), Hôpital Cochin et Institut National de la Santé et de la Recherche Médicale U567, 75014 Paris, France

Address all correspondence and requests for reprints to: Professor Albert Beckers, M.D., Ph.D., Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart Tilman, 4000 Liège, Belgium. E-mail: albert.beckers{at}chu.ulg.ac.be.

Context: Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) 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: The objective of the study was to undertake full AIP coding sequence screening to assess for the presence of germline and somatic mutations in European Union subjects with sporadic pituitary tumors.

Design: The study design was the analysis of DNA from peripheral blood lymphocytes and analysis of exons 1–6 and paraexonic 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: The study was conducted in university tertiary referral Clinical Genetics, Molecular Biology, and Endocrinology Departments.

Results: In 107 patients [prolactinomas (n =49), nonfunctioning 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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