A convergent malignant phenotype in B-cell acute lymphoblastic leukemia involving the splicing factor SRRM1.

ABSTRACT: A significant proportion of infant B-cell acute lymphoblastic leukemia (B-ALL) patients remains with a dismal prognosis due to yet undetermined mechanisms. We performed a comprehensive multicohort analysis of gene expression, gene fusions, and RNA splicing alterations to uncover molecular signatures potentially linked to the observed poor outcome. We identified 87 fusions with significant allele frequency across patients and shared functional impacts, suggesting common mechanisms across fusions. We further identified a gene expression signature that predicts high risk independently of the gene fusion background and includes the upregulation of the splicing factor SRRM1. Experiments in B-ALL cell lines provided further evidence for the role of SRRM1 on cell survival, proliferation, a

SUBMITTER: Closa A 

PROVIDER: S-EPMC9732526 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature