La néoplasie endocrinienne multiple de type 1 : mise au point après le congrès de l’ENETS 2019: Multiple Endocrine Neoplasia Type 1: Development after the ENETS 2019 Congress

Ann Endocrinol (Paris). 2019 Sep:80 Suppl 1:S19-S28. doi: 10.1016/S0003-4266(19)30113-1.
[Article in French]

Abstract

Multiple Endocrine Neoplasia Type 1 (NEM1) is related to mutations of the menin gene. It is an autosomal dominant disease. Its prevalence is about 1/30 000 with a hugh penetrance. There is no genotype-phenotype correlation. This hereditary syndrome is characterized by the presence of tumors of the endocrine system (parathyroid, endocrine pancreas, pituitary and adrenal gland). Other disorders have also been described (bronchial and thymic carcinoid tumor, breast cancer, skin lesions). Management must take into account the specificities of these pathologies in NEM1 compared to sporadic forms (young age at diagnosis, multiple lesions within the same gland, multi-focal disease). © 2019 Published by Elsevier Masson SAS. All rights reserved. Cet article fait partie du numéro supplément Les Must de l'Endocrinologie 2019 réalisé avec le soutien institutionnel de Ipsen-Pharma.

Keywords: Adénome hypophysaire; Hyperparathyroïdie primaire; Multiple endocrine Neoplasia type 1; Neuroendocrine tumor; Néoplasie endocrinienne multiple de type 1; Pituitary adenoma; Primary hyperparathyroidism; Tumeur neuroendocrine.

Publication types

  • Review

MeSH terms

  • Carcinoid Tumor / diagnosis
  • Carcinoid Tumor / epidemiology
  • Carcinoid Tumor / genetics
  • Carcinoid Tumor / therapy
  • Congresses as Topic* / organization & administration
  • Congresses as Topic* / trends
  • Endocrinology / methods
  • Endocrinology / organization & administration
  • Endocrinology / trends*
  • Gastrointestinal Neoplasms / diagnosis
  • Gastrointestinal Neoplasms / epidemiology
  • Gastrointestinal Neoplasms / genetics
  • Gastrointestinal Neoplasms / therapy
  • Humans
  • Multiple Endocrine Neoplasia Type 1* / diagnosis
  • Multiple Endocrine Neoplasia Type 1* / epidemiology
  • Multiple Endocrine Neoplasia Type 1* / genetics
  • Multiple Endocrine Neoplasia Type 1* / therapy
  • Mutation
  • Neuroendocrine Tumors / diagnosis
  • Neuroendocrine Tumors / epidemiology
  • Neuroendocrine Tumors / genetics
  • Neuroendocrine Tumors / therapy
  • Penetrance
  • Pituitary Neoplasms / diagnosis
  • Pituitary Neoplasms / epidemiology
  • Pituitary Neoplasms / genetics
  • Pituitary Neoplasms / therapy
  • Proto-Oncogene Proteins / genetics
  • Societies, Medical / organization & administration
  • Societies, Medical / standards
  • Societies, Medical / trends

Substances

  • MEN1 protein, human
  • Proto-Oncogene Proteins