Benjamin Chevalier, Lucie Coppin, Pauline Romanet, Thomas Cuny, Jean-Christophe Maiza, Juliette Abeillon, Julien Forestier, Thomas Walter, Olivier Gilly, Maëlle Le Bras, Sarra Smati, Marie Laure Nunes, Aurore Geslot, Solange Grunenwald, Céline Mouly, Gwenaelle Arnault, Kathy Wagner, Eugénie Koumakis, Christine Cortet-Rudelli, Émilie Merlen, Arnaud Jannin, Stéphanie Espiard, Isabelle Morange, Éric Baudin, Mathias Cavaille, Igor Tauveron, Marie-Pierre Teissier, Françoise Borson-Chazot, Delphine Mirebeau-Prunier, Frédérique Savagner, Éric Pasmant, Sophie Giraud, Marie-Christine Vantyghem, Pierre Goudet, Anne Barlier, Catherine Cardot-Bauters, Marie Françoise Odou
CONTEXT: 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. OBJECTIVE: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients...
January 30, 2024: Journal of Clinical Endocrinology and Metabolism