Splenomegaly in de novo acute myeloid leukemia is associated with ASXL1 mutations together with a distinct clinical and gene expression profile.

ABSTRACT:

Background

Splenomegaly is an event occurring in a variable range between 10-40% of de novo acute myeloid leukemia (AML), recently linked to poorer prognosis. Studies in murine models have shown that loss of the additional sex combs-like 1 (ASXL1) gene function leads to a significantly enlarged spleen volume, due to an increased infiltration of myeloid cells into the spleen.

Methods

In 58 de novo AML patients presenting with splenomegaly at diagnosis, we evaluated the occurrence of ASXL1 somatic mutations, deepened the molecular profile and conducted high-throughput RNA sequencing, with the aim of unveiling possible peculiar aspects of this rare clinical scenario.

Results

ASXL1 mutations (ASXL1mut) were detected in 23/58 (40%) patients, being the most frequently mutat

SUBMITTER: Tarantini F 

PROVIDER: S-EPMC12542016 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature