CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

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...

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Bibliographic Details
Main Authors: Tanguy Demaret, Damien Feret, Barbara Lambert, Delphine Pranger, Jean-Louis Dargent, Maria Dolores Martin Martinez, Antonio Renda, Isabelle Maystadt
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
whole exome sequencing
personalized medicine
tumor sequencing
case report
phenocopy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1575651/full
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