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[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022].

M Duval1, M Haissaguerre1

  • 1Service Endocrinologie et Oncologie endocrinienne, CHU de Bordeaux, hôpital Haut Lévêque, 33600 Pessac, France.

La Revue De Medecine Interne
|October 28, 2022
PubMed
Summary
This summary is machine-generated.

Multiple endocrine neoplasia (MEN) are inherited syndromes predisposing to endocrine tumors. Understanding MEN1, MEN2, and MEN4 genetic links and associated tumors is crucial for timely diagnosis and management.

Keywords:
Adénomes hypophysairesCarcinome médullaire thyroïdienHyperparathyroidismHyperparathyroïdieMedullary thyroid carcinomaMultiple endocrine neoplasia (MEN)Neuroendocrine tumorsNéoplasie endocrinienne multiple (NEM)Pituitary adenomasTumeursneuroendocrines

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Context:

  • Multiple endocrine neoplasia (MEN) syndromes (MEN1, MEN2, MEN4) are autosomal dominant genetic disorders.
  • MEN1 is linked to menin gene mutations, causing various tumors and skin conditions.
  • MEN2 involves RET proto-oncogene mutations, primarily leading to medullary thyroid carcinoma, with variable pheochromocytoma and hyperparathyroidism risks.

Purpose:

  • To outline the clinical manifestations and genetic basis of MEN syndromes.
  • To highlight the importance of genotype-phenotype correlations, especially in MEN2.
  • To emphasize the need for regular screening and early intervention in affected individuals and their children.

Summary:

  • MEN1 patients may develop primary hyperparathyroidism, pituitary adenomas, neuroendocrine tumors, and skin lesions, requiring annual follow-up and childhood screening.
  • MEN2 patients universally develop medullary thyroid carcinoma, with some experiencing pheochromocytoma or hyperparathyroidism; prophylactic thyroidectomy is recommended for aggressive forms.
  • MEN4, linked to CDKN1B mutations, is rare with less defined management protocols.

Impact:

  • Improved understanding of MEN syndromes aids in early detection and personalized management strategies.
  • Genetic testing and tailored screening protocols can significantly improve patient outcomes and reduce morbidity.
  • This knowledge supports the development of targeted therapies and enhances patient counseling regarding prognosis and hereditary risks.