Clinical Characteristics, Gene Mutation Profiles and Prognosis of Patients With Acute Myeloid Leukemia Carrying PHF6 Mutations.

BACKGROUND

Plant Homeodomain Finger Protein 6 (PHF6) gene mutations are rare in acute myeloid leukemia (AML), with unclear mechanisms and uncertain prognostic value. They may compromise risk stratification and treatment decisions. This study analyzed clinical features and survival outcomes in PHF6-mutated AML patients, evaluating the impact of allogeneic hematopoietic stem cell transplantation (HSCT) and co-mutations on prognosis. Precise stratification helps optimize prognostic models and guide individualized therapy.

METHODS

This study retrospectively analyzed 45 AML patients with PHF6 gene alterations at our institution. Clinical features, treatment approaches, therapeutic outcomes, and gene co-mutation profiles were comprehensively assessed to determine their prognostic significance. Overall survival (OS), disease-free survival (DFS), and event-free survival (EFS) among different groups were compared using the Kaplan-Meier method and log-rank test. A multivariate Cox regression model identified independent prognostic predictors.

RESULTS

PHF6-mutated AML was associated with shorter OS compared with wild-type (p = 0.003), but PHF6 mutation was not an independent predictor of OS in multivariate Cox analysis. HSCT improved OS, DFS, and EFS compared with no transplantation (all p < 0.05). Median WBC at diagnosis was 2.04 × 109/L; WBC ≥ 9.70 × 109/L independently predicted poor prognosis. RUNX1 co-mutation correlated with shorter OS; IDH1/IDH2 co-mutation with longer OS. Neither affected DFS or EFS.

CONCLUSIONS

This study provides clinical evidence for prognosis assessment in PHF6-mutated AML, enabling more precise risk stratification, individualized treatment, and further pathogenesis research.