Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

ABSTRACT: High hyperdiploid (HeH) B-cell acute lymphoblastic leukemia (B-ALL) is the most prevalent subtype of childhood ALL. This leukemia is characterized by trisomies and tetrasomies of specific chromosomes and additional point mutations. Here, we used single-cell targeted DNA and antibody sequencing to determine the clonal evolution of HeH B-ALL during development and chemotherapy treatment. Chromosomal copy number changes were mostly stable over all the leukemia cells, while mutations were typically subclonal. Within all 13 cases, at least one RAS mutant (KRAS or NRAS) subclone was detected (range: 1 to 4 subclones with RAS mutations), indicating the importance of RAS signaling in HeH B-ALL development. NSD2 mutations were detected in 4 out of 13 cases

SUBMITTER: Aertgeerts M 

PROVIDER: S-EPMC11814536 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature