Genome-wide DNA Methylation is Predictive of Outcome in Juvenile Myelomonocytic Leukemia

Study ID Alternative Stable ID Type
EGAS00001002700 Other

Study Description

Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative disorder of childhood caused by mutations in the Ras pathway. Outcomes in this disease vary dramatically from spontaneous resolution with little or no treatment to rapid relapse after hematopoietic stem cell transplantation. Given the high morbidity and late effects of transplant, it is critical to identify patients at diagnosis who can be observed rather than transplanted. We hypothesized that assessing DNA methylation status would help predict disease outcome. Genome-wide DNA methylation profiling using the Illumina 450k platform in a discovery cohort of 39 patients was performed. Unsupervised hierarchical clustering based on the most highly variable CpG sites identified three clusters of patients. Importantly, these clusters differed significantly in terms of 4-year event-free survival, with the lowest methylation cluster having the highest rates of survival. These findings were validated in an independent cohort of 40 patients. Of particular interest is that all but one of fourteen patients experiencing spontaneous ... (Show More)

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
Methylation Control samples using 450K Array
Illumina_450K 22
Methylation JMML samples using 450K Array
Illumina_450K 92

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