Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family. Issue 2 (15th January 2022)

• Record Type: Journal Article
• Authors: Wafa, Abdulsamad; Ali, Belal; Moassass, Faten; Kheder, Maged; Aljapawe, Abdulmunim; Al‐Halabi, Bassel; Mrasek, Kristin; Liehr, Thomas; Al‐Achkar, Walid
• Is Part Of: Molecular genetics & genomic medicine. Volume 10:Issue 2(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-01-15
• Subjects: acute myeloid leukemia (AML) -- CEBPA gene -- familial -- germline -- prognosis; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1854
• Languages: English
• ISSNs: 2324-9269

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. Abstract : We describe here a novel case of a familial AML with four affected members and five which had a germline c.198dupC CEBPA mutation being never observed in familial AML cases before. This family presents a new clinical feature such as FAB subtype 5 without CD7 expression in some members of that family, but still had a favorable outcome in all but one family member.