In:
European Journal of Endocrinology, Oxford University Press (OUP), Vol. 168, No. 4 ( 2013-04), p. 533-541
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
0804-4643
,
1479-683X
Sprache:
Unbekannt
Verlag:
Oxford University Press (OUP)
Publikationsdatum:
2013
ZDB Id:
1485160-X
