BZIP-Domain Variant Allele Frequency Helps to Refine Risk Stratification in CEBPA-Mutated AML.

ABSTRACT: Objectives: To investigate the prognostic value of CEBPA (CCAAT/enhancer-binding protein α) molecular features, such as variant allele frequency (VAF), in patients with de novo acute myeloid leukemia (AML). Methods: Next-generation sequencing (NGS) was used to detect CEBPA mutations in 162 patients with newly diagnosed AML (except acute promyelocytic leukemia). Results: We established 44.2% as the optimal threshold for both maximum VAF and bZIP-domain VAF. The high-VAF group showed higher leukemia burden and inferior event-free survival (EFS). bZIP-domain VAF demonstrated superior prognostic value over maximum VAF (HR: 3.174 vs. 2.460) and was validated across subgroups, namely cytogenetically normal acute myeloid leukemia (CN-AML), chemotherapy-only, and low/intermedi

SUBMITTER: Zhang K 

PROVIDER: S-EPMC12839442 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature