{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:50:03Z","timestamp":1790949003898,"version":"4.1.0"},"reference-count":67,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with &amp;lt;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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Retrospective observational nationwide study. Narrative review of literature and variant class reassessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgae055","type":"journal-article","created":{"date-parts":[[2024,1,25]],"date-time":"2024-01-25T15:37:07Z","timestamp":1706197027000},"page":"e1482-e1493","source":"Crossref","is-referenced-by-count":42,"title":["Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6449-3148","authenticated-orcid":false,"given":"Benjamin","family":"Chevalier","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital , 59000 Lille , France"},{"name":"University of Lille , 59000 Lille , France"},{"name":"Department of Nuclear Medicine, Lille University Hospital , 59000 Lille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-720X","authenticated-orcid":false,"given":"Lucie","family":"Coppin","sequence":"additional","affiliation":[{"name":"University of Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277\u2014CANTHER\u2014Cancer\u2014Heterogeneity Plasticity and Resistance to Therapies , 59000 Lille , France"},{"name":"CHU Lille, Service de Biochimie et Biologie mol\u00e9culaire \u00ab Hormonologie, M\u00e9tabolisme-Nutrition, Oncologie , 59000 Lille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1775-9569","authenticated-orcid":false,"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology GEnOP\u00e9, Biog\u00e9nop\u00f4le, Aix Marseille Univ, APHM, INSERM, UMR1251 MMG, H\u00f4pital de la Timone , 13005 Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8440-0030","authenticated-orcid":false,"given":"Thomas","family":"Cuny","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Aix Marseille Univ, APHM, INSERM, UMR1251 MMG, MARMARA Institute, CRMR HYPO, H\u00f4pital de la Conception , 13005 Marseille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5740-508X","authenticated-orcid":false,"given":"Jean-Christophe","family":"Ma\u00efza","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes, and Nutrition, GHSR, Centre Hospitalo-Universitaire de la R\u00e9union , 97448 Saint-Pierre, La R\u00e9union , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2303-6762","authenticated-orcid":false,"given":"Juliette","family":"Abeillon","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, F\u00e9d\u00e9ration d\u2019Endocrinologie, Universit\u00e9 Claude Bernard Lyon 1 , 69003 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Forestier","sequence":"additional","affiliation":[{"name":"Service d'Oncologie M\u00e9dicale et H\u00e9patogastroent\u00e9rologie, Hospices Civil de Lyon , 69003 Lyon , 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