{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T16:41:27Z","timestamp":1780418487176,"version":"3.54.1"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T00:00:00Z","timestamp":1744848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:italic>CEBPA<\/jats:italic>-associated familial acute myeloid leukemia (AML) is an autosomal dominant leukemia predisposition syndrome associated with germline variants in the <jats:italic>CEBPA<\/jats:italic> gene. Werner syndrome (WS) is an autosomal recessive progeroid syndrome causing premature aging and malignancies (e.g., AML). We report a 41-year-old man referred for medical genetic evaluation because of 3 synchronous tumors (colon, kidney, and thyroid) and premature aging. He underwent hematopoietic stem cell transplantation (HSCT) at 12\u00a0years of age because of AML diagnosed 3 years earlier. His sister (donor for the HSCT) and his brother later developed AML, as did two of her sister\u2019s three children. The patient met the clinical criteria for a \u201cprobable\u201d WS, but duo-based (urine and blood DNA) whole exome sequencing did not confirm this diagnosis. A heterozygous c.350del p.(Gly117Alafs*43) pathogenic variant in the <jats:italic>CEBPA<\/jats:italic> gene was found in the proband\u2019s urine and blood DNA, and in his affected relatives. We postulate that AML management led to adverse effects in the proband, mimicking a WS phenotype (phenocopy). To our knowledge, this is the first report of a leukemia predisposition syndrome mimicking a progeroid syndrome. The diagnosis allowed for personalized medicine (i.e., lifelong regular complete blood count check-up) in the proband and his affected relatives.<\/jats:p>","DOI":"10.3389\/fgene.2025.1575651","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T05:25:19Z","timestamp":1744867519000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report"],"prefix":"10.3389","volume":"16","author":[{"given":"Tanguy","family":"Demaret","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Feret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Pranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Dargent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Dolores","family":"Martin Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Renda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.1182\/blood-2016-09-687822","article-title":"Expression and regulation of C\/EBP\u03b1 in normal myelopoiesis and in malignant transformation","volume":"129","author":"Avellino","year":"2017","journal-title":"Blood"},{"key":"B2","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/j.jmoldx.2015.11.009","article-title":"Sensitivity analysis of the MGMT-STP27 model and impact of genetic and epigenetic context to predict the MGMT methylation status in gliomas and other tumors","volume":"18","author":"Bady","year":"2016","journal-title":"J. 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