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Case Reports
. 2022 Feb;10(2):e1854.
doi: 10.1002/mgg3.1854. Epub 2022 Jan 15.

Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family

Abdulsamad Wafa  1 , Belal Ali  2 , Faten Moassass  1 , Maged Kheder  2 , Abdulmunim Aljapawe  3 , Bassel Al-Halabi  1 , Kristin Mrasek  4 , Thomas Liehr  4 , Walid Al-Achkar  1
Affiliations
Case Reports

Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family

Abdulsamad Wafa et al. Mol Genet Genomic Med. 2022 Feb.

Abstract

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.

Keywords: CEBPA gene; acute myeloid leukemia (AML); familial; germline; prognosis.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

FIGURE 1
FIGURE 1
Pedigree of the reported family. Family members with asterisks are carriers of the familial CEBPA mutation
See this image and copyright information in PMC

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