Adénomes hypophysaires familiaux

Translated title of the contribution: Familial pituitary adenomas

S. Vandeva, V. Vasilev, L. Vroonen, L. Naves, M. L. Jaffrain-Rea, A. F. Daly, S. Zacharieva, A. Beckers

Research output: Contribution to journalArticlepeer-review

Abstract

Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern because of hormonal overproduction or compression symptoms of adjacent structures. Most arise in a sporadic setting with a small percentage developing as a part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and the recently described familial isolated pituitary adenomas (FIPA) and MEN-4. While the genetic alterations responsible for the formation of sporadic adenomas remain largely unknown, considerable advances have been made in defining culprit genes in these familial syndromes. Mutations in MEN1 and PRKAR1A genes are found in the majority of MEN1 and CNC patients, respectively. About 15% of FIPA kindreds present with mutations of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Mutations in the CDKN1B gene, encoding p27Kip1 were identified in MEN4 cases. Familial tumours appear to differ from their sporadic counterparts not only in genetic basis but also in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, they are more aggressive and affect patients at younger age, therefore justifying the importance of early diagnosis. In this review, we summarize the genetic and clinical characteristics of these familial pituitary adenomas.

Translated title of the contributionFamilial pituitary adenomas
Original languageFrench
Pages (from-to)479-485
Number of pages7
JournalAnnales d'Endocrinologie
Volume71
Issue number6
DOIs
Publication statusPublished - Dec 2010

Keywords

  • Carney complex
  • Familial pituitary tumours
  • FIPA
  • MEN 1

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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