Impact of ASXL1 Gene Alterations on Myelodysplastic Syndrome With Isolated 20q Deletion.

ABSTRACT:

Background

Isolated 20q deletion [del(20q)] is a recurrent favorable abnormality in myelodysplastic syndrome (MDS) and may cause deletion of the ASXL1 gene. Meanwhile, ASXL1 mutations are also common in individuals with MDS. This study aimed to describe the biological and clinical implications of ASXL1 mutations and deletion in newly diagnosed MDS patients with isolated del(20q).

Methods

Gene mutation and copy number alterations in 178 newly diagnosed MDS patients with isolated del(20q) were analyzed using DNA next generation sequencing.

Results

Twenty-five (14%) of 178 patients were found to have ASXL1 mutations, which exhibited lower absolute neutrophil counts (ANC) (p = 0.006), a higher percentage of bone marrow blasts (p = 0.001), more mutant genes (p < 0.001), hi

SUBMITTER: Chang Y 

PROVIDER: S-EPMC11883421 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature