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, Jahrgang 99, Nr. 12, 2014, S. E2789-93.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -