<i>CEBPA</i>-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report.

ABSTRACT: 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 12 years 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's three children. The patient met the clinical criteria for a "probable" WS, but duo-based (urine and blood DNA) whole exome sequencing

SUBMITTER: Demaret T 

PROVIDER: S-EPMC12043886 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature