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CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1575651
This article is part of the Research TopicInnovative Genetic Techniques and Therapeutic Strategies for Acute Myeloid Leukemia SubtypesView all articles
CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report
Provisionally accepted
Tanguy Demaret1*
Damien Feret1Barbara Lambert1Delphine Pranger2
Jean-Louis Dargent3Maria Dolores Martin-Martinez3Antonio Renda4
Isabelle Maystadt1,5*- 1Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium
- 2Service d'Hématologie, Grand Hôpital de Charleroi (GHdC), Charleroi, Belgium
- 3Centre d'Anatomopathologie, Institut de Pathologie et Génétique, Gosselies, Belgium
- 4Service d'Urologie, Grand Hôpital de Charleroi (GHdC), Charleroi, Belgium
- 5Département de Médecine, URPHYM, University of Namur, Namur, Belgium
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CEBPA-associated familial acute myeloid leukemia (AML) is an autosomal dominant leukemia predisposition syndrome associated with germline variants in the CEBPA 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 9 years of age because of AML diagnosed at that time. His sister (donor for the HSCT) and his brother later developed AML, as did two of her sister's three children. The patient met the clinical criteria for a "possible" 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 CEBPA gene was found in the proband's 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.
Keywords: whole exome sequencing, personalized medicine, tumor sequencing, case report, Phenocopy
Received: 13 Feb 2025; Accepted: 02 Apr 2025.
Copyright: © 2025 Demaret, Feret, Lambert, Pranger, Dargent, Martin-Martinez, Renda and Maystadt. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Tanguy Demaret, Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium
Isabelle Maystadt, Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium
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