Title :

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

Author(s) :

Chevalier, Benjamin [Auteur]
Coppin, Lucie [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Romanet, Pauline [Auteur]
Cuny, Thomas [Auteur]
Maïza, Jean-Christophe [Auteur]
Abeillon, Juliette [Auteur]
Forestier, Julien [Auteur]
Walter, Thomas [Auteur]
Hospices Civils de Lyon [HCL]
Centre de Recherche en Cancérologie de Lyon [UNICANCER/CRCL]
Université Claude Bernard Lyon 1 [UCBL]
Hôpital Edouard Herriot [CHU - HCL]
Gilly, Olivier [Auteur]
Le Bras, Maëlle [Auteur]
Smati, Sarra [Auteur]
Nunes, Marie Laure [Auteur]
Geslot, Aurore [Auteur]
Grunenwald, Solange [Auteur]
Mouly, Céline [Auteur]
Arnault, Gwenaelle [Auteur]
Wagner, Kathy [Auteur]
Koumakis, Eugénie [Auteur]
Cortet-Rudelli, Christine [Auteur]
Merlen, Émilie [Auteur]
Jannin, Arnaud [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Service Endocrinologie, diabétologie, maladies métaboliques et nutrition [LILLE - Endocrino]
Espiard, Stéphanie [Auteur]
Morange, Isabelle [Auteur]
Baudin, Éric [Auteur]
Cavaille, Mathias [Auteur]
Tauveron, Igor [Auteur]
Teissier, Marie-Pierre [Auteur]
Borson-Chazot, Françoise [Auteur]
Mirebeau-Prunier, Delphine [Auteur]
Savagner, Frédérique [Auteur]
Pasmant, Éric [Auteur]
Giraud, Sophie [Auteur]
Vantyghem, Marie-Christine [Auteur]
Goudet, Pierre [Auteur]
Barlier, Anne [Auteur]
Cardot-Bauters, Catherine [Auteur]
Odou, Marie Françoise [Auteur]

Journal title :

Journal of Clinical Endocrinology and Metabolism

Publisher :

Endocrine Society

Publication date :

2024-01-30

ISSN :

0021-972X

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Abstract 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 ...
Show more >Abstract 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. Design Retrospective observational nationwide study. Narrative review of literature and variant class reassessment. Patients We included all adult patients with class 3/4/5 CDKN1B variants identified by the laboratories from the French Oncogenetic Network on Neuroendocrine Tumors network between 2015 and 2022 through germline genetic testing for MEN1 suspicion. After class reassessment, we compared the phenotype of symptomatic patients with class 4/5 CDKN1B variants (ie, with genetically confirmed MEN4 diagnosis) in our series and in literature with 66 matched MEN1 patients from the UMD-MEN1 database. Results From 5600 MEN1-suspected patients analyzed, 4 with class 4/5 CDKN1B variant were found (0.07%). They presented with multiple duodenal NET, primary hyperparathyroidism (PHPT) and adrenal nodule, isolated PHPT, PHPT, and pancreatic neuroendocrine tumor. We listed 29 patients with CDKN1B class 4/5 variants from the literature. Compared with matched MEN1 patients, MEN4 patients presented lower NET incidence and older age at PHPT diagnosis. Conclusion The prevalence of MEN4 is low. PHPT and pituitary adenoma represent the main associated lesions, NETs are rare. Our results suggest a milder and later phenotype than in MEN1. Our observations will help to improve genetic counseling and management of MEN4 families.Show less >

Language :

Anglais

Popular science :

Non

Collections :

• Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277

Source :

Harvested from HAL