Laura C. Gelston

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: It is shown that DNA methylation patterns in JMML are predictive of outcome and can identify the patients most likely to experience spontaneous resolution, and these findings were validated in an independent cohort of 40 patients.

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.

TL;DR: It is concluded that the presence of a subclonal mutation in SETBP1 is a novel biomarker of adverse outcome in JMML, and the hypothesis that rare SETBP 1 mutant clones exist at diagnosis in many patients who relapse, and that these rare cells undergo positive selection during treatment is tested.