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Article Dans Une Revue European Journal of Endocrinology Année : 2011

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Maria A Tichomirowa
  • Fonction : Auteur
Adrian F Daly
  • Fonction : Auteur
Marie-Lise Jaffrain-Rea
  • Fonction : Auteur
Cristina Ronchi
  • Fonction : Auteur
Maria Yaneva
  • Fonction : Auteur
Jonathan D Urban
  • Fonction : Auteur
Patrick Petrossians
  • Fonction : Auteur
Atanaska Elenkova
  • Fonction : Auteur
Antoine Tabarin
  • Fonction : Auteur
Rachel Desailloud
Dominique Maiter
  • Fonction : Auteur
Thomas Schürmeyer
  • Fonction : Auteur
Renato Cozzi
  • Fonction : Auteur
Marily Theodoropoulou
  • Fonction : Auteur
Caroline Sievers
  • Fonction : Auteur
Ignacio Bernabeu
  • Fonction : Auteur
Luciana A Naves
  • Fonction : Auteur
Carmen Fajardo Montañana
  • Fonction : Auteur
Vaclav Hana
  • Fonction : Auteur
Georges Halaby
  • Fonction : Auteur
José Ignacio Labarta Aizpún
  • Fonction : Auteur
Angel Ferrandez Longás
  • Fonction : Auteur
Marie-Thérèse Hagelstein
  • Fonction : Auteur
Günter K Stalla
  • Fonction : Auteur
Vincent Bours
  • Fonction : Auteur
Sabina Zacharieva
  • Fonction : Auteur
Anna Spada
  • Fonction : Auteur
Albert Beckers
  • Fonction : Auteur

Résumé

BACKGROUND: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. METHODS: We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at <30 years of age. RESULTS: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary adenoma patients. Large genetic deletions were not seen using multiplex ligation-dependent probe amplification. Familial screening was possible in the relatives of seven patients with AIPmut and carriers were found in six of the seven families. In total, pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas. CONCLUSION: Germline AIPmut occur in 11.7% of patients <30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients. AIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management.

Dates et versions

hal-00755667 , version 1 (21-11-2012)

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Citer

Maria A Tichomirowa, Anne A. Barlier, Adrian F Daly, Marie-Lise Jaffrain-Rea, Cristina Ronchi, et al.. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.. European Journal of Endocrinology, 2011, 165 (4), pp.509-15. ⟨10.1530/EJE-11-0304⟩. ⟨hal-00755667⟩
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