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Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study
Christof Schöfl1, Jürgen Honegger, Michael Droste
1Division of Endocrinology and Diabetes (C.S., B.M.), Department of Medicine I, Friedrich-Alexander-University Erlangen-Nuremberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tuebingen, 72076 Tuebingen, Germany; Endocrine Practice (M.D.), 26122 Oldenburg, Germany; Center of Endocrinology and Diabetes (M.G.), 70178 Stuttgart, Germany; Endocrine Practice Kaisereiche (R.F.), 12159 Berlin, Germany; Interdisciplinary Center of Metabolism: Endocrinology, Diabetes, and Metabolism (U.P.), Charite-University-Medicine Berlin, 13352 Berlin, Germany; Department of Endocrinology (C.Be.), University Hospital of Essen, 45147 Essen, Germany; Division of Special Endocrinology (H.S.W.), Department of Endocrinology and Diabetes, Medical Faculty, Heinrich-Heine University Düsseldorf, 40225 Düsseldorf, Germany; Fifth Medical Clinic (A.L.), University Medical Center Mannheim, University of Heidelberg, 68167 Heidelberg, Germany; Division of Endocrinology and Diabetes (D.K.), Department of Medicine I, Rheinische Friedrich-Wilhelms-University Bonn, 53127 Bonn, Germany; Department of Endocrinology (C.J.-H.), German Clinic of Diagnostics, Wiesbaden, 65191 Wiesbaden, Germany; Medical Department III (A.T.), University of Leipzig, 04103 Leipzig, Germany; Department of Gastroenterology, Hepatology, and Endocrinology (S.S.), Hannover Medical School, 30625 Hannover, Germany; Pituitary Surgery/Interdisciplinary Endocrinology (J.F.), UKE Hamburg, 20246 Hamburg, Germany; Endocrine Practice (C.Bu.), 20095 Hamburg, Germany; Max Planck Institute of Psychiatry (C.D., G.S.), 80804 Munich, Germany; Bioglobe GmbH (W.H.), 22529 Hamburg, Germany; and Medizinische Klinik IV (J.S.), Ludwig-Maximilians-University 80336 Munich, Germany.
Context:
Familial and sporadic GH-secreting pituitary adenomas are associated with mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. Patients with an AIP mutation (AIPmut) tend to have more aggressive tumors occurring at a younger age.
Objective:
The objective of the study was to investigate the frequency of AIPmut in patients diagnosed at 30 years of age or younger.
Design:
The German Acromegaly Registry database (1795 patients in 58 centers) was screened for patients diagnosed with acromegaly at 30 years of age or younger (329 patients). Sixteen centers participated and 91 patients consented to AIPmut analysis.
Intervention:
DNA was analyzed by direct sequencing and multiplex ligation dependent probe amplification Main outcome Measures: The number of patients with AIPmut was measured.
Results:
Five patients had either a mutation (c.490C>T, c.844C>T, and c.911G>A, three males) or gross deletions of exons 1 and 2 of the AIP gene (n = 2, one female). The overall frequency of an AIPmut was 5.5%, and 2.3% or 2.4% in patients with an apparently sporadic adenoma or macroadenoma, respectively. By contrast, three of four patients (75%) with a positive family history were tested positive for an AIPmut. Except for a positive family history, there were no significant differences between patients with and without an AIPmut.
Conclusions:
The frequency of AIPmut in this registry-based cohort of young patients with acromegaly is lower than previously reported. Patients with a positive family history should be tested for an AIPmut, whereas young patients without an apparent family history should be screened, depending on the individual cost to benefit ratio.
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