Skip to Main content Skip to Navigation
Journal articles

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Thomas Cuny 1, 2 Morgane Pertuit 3, 4 Mona Sahnoun-Fathallah 5 Adrian Daly 6 Gianluca Occhi 7 Marie Françoise Odou 8 Antoine Tabarin 9 Marie Laure Nunes 9 Brigitte Delemer 10 Vincent Rohmer 11 Rachel Desailloud 12 Véronique Kerlan 13, 14 Olivier Chabre 15, 16 Jean-Louis Sadoul 17 Muriel Cogne 18 Philippe Caron 19 Christine Cortet-Rudelli 20 Anne Lienhardt-Roussie 21 Isabelle Raingeard 22 Anne-Marie Guedj 23 Thierry Brue 5, 2 Albert Beckers 6 Georges Weryha 1 Alain Enjalbert 4, 2 Anne Barlier 4, 2, *
Abstract : 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.
Document type :
Journal articles
Complete list of metadatas
Contributor : Ghislaine Calvez <>
Submitted on : Tuesday, January 21, 2014 - 10:39:05 AM
Last modification on : Wednesday, January 6, 2021 - 5:14:03 PM

Links full text




Thomas Cuny, Morgane Pertuit, Mona Sahnoun-Fathallah, Adrian Daly, Gianluca Occhi, et al.. Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.. European Journal of Endocrinology, BioScientifica, 2013, 168 (4), pp.533-41. ⟨10.1530/EJE-12-0763⟩. ⟨hal-00933803⟩



Record views