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Updated: Oct 6, 2025
Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
Published on: February 21, 2018
Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family
Abdulsamad Wafa1, Belal Ali2, Faten Moassass1
1Human Genetics Division, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria, Damascus, Syria.
Background:
Familial cases of adult acute myeloid leukemia (AML) with germline-mutated CCAAT/enhancer-binding protein-α (CEBPA) gene are a rare entity classified in World Health Organization (WHO) classification 2016. Most families reported in the literature show an autosomal dominant inheritance pattern consistent with a single-gene mutation.
Methods:
Here we studied a Syrian family with four individuals suffering from AML for CEBPA gene mutations by Sanger sequencing.
Results:
The father, his three affected, and one yet unaffected child had the same mutation in the N-terminal region of CEBPA (c.198dupC), resulting in termination at Tyr67Leufs*41. All affected family members had a good primary response to chemotherapy and achieved complete remission.
Conclusion:
Overall, another AML family with CEBPA gene mutation is added to the literature, presenting with yet unreported FAB subtype M5 and absence of CD7 expression in some family members.
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