PHF6 and RUNX1 mutations cooperate to accelerate leukemogenesis.

ABSTRACT:

Background

RUNX1 is a critical transcription factor in hematopoiesis and its mutations occur in various hematological diseases. PHF6 (plant homeodomain finger gene 6) is regarded as an epigenetic modifier, and its mutations are seen in myeloid and lymphoid leukemia. Previous studies have shown positive association of these two mutations. However, the joint pathological effects of these two genetic alterations remained unexplored.

Methods

We sought to investigate the pathological basis of the association between these two mutations. We first analyzed the clinical, genetic, and transcriptomic features of our cohort of patients with acute myeloid leuemia (AML) focusing on these two mutations. We transduced RUNX1 mutant into the genetically engineered Phf6 knockout (KO) mouse mo

SUBMITTER: Hsu YC 

PROVIDER: S-EPMC12302341 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature