Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia.

ABSTRACT: The mechanisms driving clonal heterogeneity and evolution in relapsed pediatric acute lymphoblastic leukemia (ALL) are not fully understood. We performed whole genome sequencing of samples collected at diagnosis, relapse(s) and remission from 29 Nordic patients. Somatic point mutations and large-scale structural variants were called using individually matched remission samples as controls, and allelic expression of the mutations was assessed in ALL cells using RNA-sequencing. We observed an increased burden of somatic mutations at relapse, compared to diagnosis, and at second relapse compared to first relapse. In addition to 29 known ALL driver genes, of which nine genes carried recurrent protein-coding mutations in our sample set, we identified putative non-protein coding mutations in reg

SUBMITTER: Sayyab S 

PROVIDER: S-EPMC8346595 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature