Association of <i>ASXL1</i> and <i>RUNX1</i> Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.

ABSTRACT: Although splenomegaly is typically uncommon in myelodysplastic syndromes (MDS), it is associated with reduced engraftment rates and poor survival outcomes. Despite its clinical significance, the incidence and genetic associations of splenomegaly in MDS remain understudied. To address this, we conducted a retrospective study of 27 patients with MDS at the Veterans Health Service Medical Center in South Korea. Based on computed tomography scan evaluation, splenomegaly was identified in 26% of patients with MDS, and significant associations with variants in ASXL1 (P =0.0089 for null and missense/inframe variants) and RUNX1 (P =0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly. Notably, one patient

SUBMITTER: Huh Y 

PROVIDER: S-EPMC12698242 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature