Dataset Information
Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family.
Ontology highlight
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.
SUBMITTER: Wafa A
PROVIDER: S-EPMC8830806 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Publications
Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family.
Molecular genetics & genomic medicine 20220115 2
<h4>Background</h4>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.<h4>Methods</h4>Here we studied a Syrian family with four individuals suffering from AML for CEBPA gene mutations by Sanger sequencing.<h4>Results</ ...[more]