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

Abstract

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

• acute myeloid leukemia (AML)
• CEBPA gene
• familial
• germline
• prognosis