Study

Genomic and epigenomic characterization of juvenile myelomonocytic leukemia (JMML)

Study ID Alternative Stable ID Type
EGAS00001002511 Other

Study Description

Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative disorder of early childhood. While some cases show spontaneous remission, allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for the majority of patients, however, the 5-year event-free survival reaches only about 50%. Hyperactive RAS signaling is assumed to be the main driving event in JMML. It is caused by genetic alterations in CBL, KRAS, NF1, NRAS, or PTPN11 in about 90% of patients. So far, there is no clear understanding of how RAS pathway mutations relate to the heterogeneous disease biology and variable clinical outcome seen in JMML patients. As a consequence, established clinical and genetic markers fail to fully represent the observed disease heterogeneity. We hypothesized that DNA methylation profiling, either alone or in combination with genetic alterations, might provide a molecular basis for disease classification. Genome wide DNA methylation analysis using the HumanMethylation450 Bead Chip array was performed in a discovery cohort of 20 ... (Show More)

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
EGAD00001003419
Whole exome seqeuncing from primary human JMML samples
Illumina HiSeq 2000 50
EGAD00010001296
DNA methylation analysis from primary human JMML and normal blood samples using 450K
Illumina_450K N/A
EGAD00010001430
Gene expression analysis from primary human JMML samples using Illumina Human HT-12 v4
Illumina_HumanHT-12_V4 15

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