Kyle Beckman

TL;DR: Genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia to expand knowledge of the mutational spectrum in JMML and identified recurrent mutations in genes involved in signal transduction, splicing, Polycomb repressive complex 2 (PRC2) and transcription.

TL;DR: Using droplet digital polymerase chain reaction, SETBP1 mutations were identified in 17/56 of patients who were treated in the Children's Oncology Group sponsored clinical trial, AAML0122, and five-year event-free survival in patients with SET BP1 mutations was 18% ± 9% compared with 51% ± 8% for those without mutations.

TL;DR: ABT-199, a selective Bcl-2 inhibitor, was effective in reducing leukemic burden in vitro and in vivo in patient-derived xenograft models of hypodiploid B-ALL.

TL;DR: The survival protein Bcl-2 is identified as a promising molecular target in hypodiploid B-ALL by integrated biochemical and genomic profiling and functional drug assays, and biochemical characterization of the organ infiltrating blasts collected from mice on trial indicate that the sensitivity of hypodi ploid ALL to ABT-199 relies not only on high levels of Bcl -2 and deficiency for other survival proteins.

TL;DR: In this paper, two patients were stated on page 5 to have been excluded owing to insufficient follow-up data, but two additional patients were excluded due to the presence of Noonan syndrome.