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http://purl.uniprot.org/citations/23321498http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23321498http://www.w3.org/2000/01/rdf-schema#comment"

Context

Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a population.

Objective

We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age ≤30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions.

Design

The entire coding sequences of AIP and MEN1 were screened for mutations. In cases of negative sequencing screening, multiplex ligation-dependent probe amplification was performed for the detection of large genetic deletions.

Patients and settings

One hundred and seventy-four patients from endocrinology departments of 15 French University Hospital Centers were eligible for this study.

Results

Twenty-one out of 174 (12%) patients had AIP (n=15, 8.6%) or MEN1 (n=6, 3.4%) mutations. In pediatric patients (age ≤18 years old), AIP/MEN1 mutation frequency reached nearly 22% (n=10/46). AIPmut and MEN1mut were identified in 8/79 (10.1%) and 1/79 (1.2%) somatotropinoma patients respectively; they each accounted for 4/74 (5.4%) prolactinoma (PRL) patients with mutations. Half of those patients (n=3/6) with gigantism displayed mutations in AIP. Interestingly, 4/12 (33%) patients with non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the eight corticotroph adenomas or the single thyrotropinoma case had mutations. No large gene deletions were observed in sequencing-negative patients.

Conclusion

Mutations in MEN1 can be of significance in young patients with sporadic isolated pituitary macroadenomas, particularly PRL, and together with AIP, we suggest genetic analysis of MEN1 in such a population."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.org/dc/terms/identifier"doi:10.1530/eje-12-0763"xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Barlier A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Beckers A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Brue T."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Caron P."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Chabre O."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Delemer B."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Desailloud R."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Enjalbert A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Rohmer V."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Tabarin A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Daly A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Occhi G."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Lienhardt A."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Cogne M."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Cortet-Rudelli C."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Raingeard I."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Nunes M.L."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Weryha G."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Sadoul J.L."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Odou M.F."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Pertuit M."xsd:string
http://purl.uniprot.org/citations/23321498http://purl.uniprot.org/core/author"Guedj A.M."xsd:string
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