Beyond MEN1, when to think about MEN4? Retrospective study on 5600 patients in the French population & literature review.
Fiche publication
Date publication
janvier 2024
Journal
The Journal of clinical endocrinology and metabolism
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GOUDET Pierre
Tous les auteurs :
Chevalier B, Coppin L, Romanet P, Cuny T, Maiza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É, Jannin A, Espiard S, Morange I, Baudin É, Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É, Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, Odou MF
Lien Pubmed
Résumé
Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically-negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear.
Mots clés
CDKN1B , MEN1, MEN4, Multiple Endocrine Neoplasia, neuroendocrine tumor, parathyroid, pituitary
Référence
J Clin Endocrinol Metab. 2024 01 30;: