Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study

Schöfl C, Honegger J, Droste M, Grussendorf M, Finke R, Ploeckinger U, Berg C, Willenberg HS, Lammert A, Klingmueller D, Jaursch-Hancke C, Toenjes A, Schneidewind S, Flitsch J, Bullmann C, Dimopoulou C, Stalla G, Mayr B, Hoeppner W, Schopohl J (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Journal of Clinical Endocrinology and Metabolism Oxford University Press

Publisher: Endocrine Society

Book Volume: 99

Pages Range: E2789-93

Journal Issue: 12

DOI: 10.1210/jc.2014-2094

Abstract

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.The objective of the study was to investigate the frequency of AIPmut in patients diagnosed at 30 years of age or younger.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.DNA was analyzed by direct sequencing and multiplex ligation dependent probe amplification Main outcome Measures: The number of patients with AIPmut was measured.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.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.

Authors with CRIS profile

Christof Schöfl Professur für Endokrinologie

Involved external institutions

Eberhard Karls Universität Tübingen DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE) Universitätsklinikum Essen DE Germany (DE) Heinrich-Heine-Universität Düsseldorf DE Germany (DE) Ruprecht-Karls-Universität Heidelberg DE Germany (DE) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE) HELIOS Kliniken DE Germany (DE) Universität Leipzig DE Germany (DE) Medizinische Hochschule Hannover (MHH) / Hannover Medical School DE Germany (DE) Max-Planck-Institut für Psychiatrie (Deutsche Forschungsanstalt für Psychiatrie) DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE)

How to cite

APA:

Schöfl, C., Honegger, J., Droste, M., Grussendorf, M., Finke, R., Ploeckinger, U.,... Schopohl, J. (2014). Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. Journal of Clinical Endocrinology and Metabolism, 99(12), E2789-93. https://doi.org/10.1210/jc.2014-2094

MLA:

Schöfl, Christof, et al. "Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study." Journal of Clinical Endocrinology and Metabolism 99.12 (2014): E2789-93.

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