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

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Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. / Schöfl, Christof; Honegger, Jürgen; Droste, Michael; Grussendorf, Martin; Finke, Reinhard; Plöckinger, Ursula; Berg, Christian; Willenberg, Holger S; Lammert, Alexander; Klingmüller, Dietrich; Jaursch-Hancke, Cornelia; Tönjes, Anke; Schneidewind, Sabine; Flitsch, Jörg; Bullmann, Catharina; Dimopoulou, Christina; Stalla, Günter; Mayr, Bernhard; Hoeppner, Wolfgang; Schopohl, Jochen.

In: J CLIN ENDOCR METAB, Vol. 99, No. 12, 2014, p. E2789-93.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schöfl, C, Honegger, J, Droste, M, Grussendorf, M, Finke, R, Plöckinger, U, Berg, C, Willenberg, HS, Lammert, A, Klingmüller, D, Jaursch-Hancke, C, Tönjes, A, Schneidewind, S, Flitsch, J, Bullmann, C, Dimopoulou, C, Stalla, G, Mayr, B, Hoeppner, W & Schopohl, J 2014, 'Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study', J CLIN ENDOCR METAB, vol. 99, no. 12, pp. E2789-93. https://doi.org/10.1210/jc.2014-2094

APA

Schöfl, C., Honegger, J., Droste, M., Grussendorf, M., Finke, R., Plöckinger, U., Berg, C., Willenberg, H. S., Lammert, A., Klingmüller, D., Jaursch-Hancke, C., Tönjes, A., Schneidewind, S., Flitsch, J., Bullmann, C., Dimopoulou, C., Stalla, G., Mayr, B., Hoeppner, W., & Schopohl, J. (2014). Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J CLIN ENDOCR METAB, 99(12), E2789-93. https://doi.org/10.1210/jc.2014-2094

Vancouver

Schöfl C, Honegger J, Droste M, Grussendorf M, Finke R, Plöckinger U et al. Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J CLIN ENDOCR METAB. 2014;99(12):E2789-93. https://doi.org/10.1210/jc.2014-2094

Bibtex

@article{0725766927864b72b2e8234609d76eef,
title = "Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study",
abstract = "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.",
author = "Christof Sch{\"o}fl and J{\"u}rgen Honegger and Michael Droste and Martin Grussendorf and Reinhard Finke and Ursula Pl{\"o}ckinger and Christian Berg and Willenberg, {Holger S} and Alexander Lammert and Dietrich Klingm{\"u}ller and Cornelia Jaursch-Hancke and Anke T{\"o}njes and Sabine Schneidewind and J{\"o}rg Flitsch and Catharina Bullmann and Christina Dimopoulou and G{\"u}nter Stalla and Bernhard Mayr and Wolfgang Hoeppner and Jochen Schopohl",
year = "2014",
doi = "10.1210/jc.2014-2094",
language = "English",
volume = "99",
pages = "E2789--93",
journal = "J CLIN ENDOCR METAB",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "12",

}

RIS

TY - JOUR

T1 - Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study

AU - Schöfl, Christof

AU - Honegger, Jürgen

AU - Droste, Michael

AU - Grussendorf, Martin

AU - Finke, Reinhard

AU - Plöckinger, Ursula

AU - Berg, Christian

AU - Willenberg, Holger S

AU - Lammert, Alexander

AU - Klingmüller, Dietrich

AU - Jaursch-Hancke, Cornelia

AU - Tönjes, Anke

AU - Schneidewind, Sabine

AU - Flitsch, Jörg

AU - Bullmann, Catharina

AU - Dimopoulou, Christina

AU - Stalla, Günter

AU - Mayr, Bernhard

AU - Hoeppner, Wolfgang

AU - Schopohl, Jochen

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

U2 - 10.1210/jc.2014-2094

DO - 10.1210/jc.2014-2094

M3 - SCORING: Journal article

C2 - 25093619

VL - 99

SP - E2789-93

JO - J CLIN ENDOCR METAB

JF - J CLIN ENDOCR METAB

SN - 0021-972X

IS - 12

ER -