NCI’s Childhood Cancer Data Initiative (CCDI) funding has facilitated the sharing of Juvenile Myelomonocytic Leukemia (JMML) data for researchers. Data are stored at NCI’s Cancer Data Service (CDS) and can be accessed through the database of Genotypes and Phenotypes’ (dbGaP’s) controlled-access process.

JMML is a rare but aggressive form of blood cancer that primarily affects children under 4 years of age. To better understand this complex disease, a JMML tissue bank was established at University of California San Francisco (UCSF). For more than 30 years, UCSF researchers, starting with Dr. Kevin Shannon and then Dr. Mignon Loh, have collected and banked tissue, maintained consent documentation, and followed patients over time.

“It has been a privilege to have access to this unique cohort of precious patient samples,” said Dr. Elliot Stieglitz, who now leads this initiative. “This collection has enabled us to analyze thousands of specimens, and to follow those patients for years, giving us a better understanding of the genetic, epigenetic, and biochemical basis of this Ras-driven leukemia. We want to share this data set with the JMML community at large,” he added.

Dr. Subhashini Jagu, a CBIIT health science administrator and CCDI Data Platform Working Group member, noted, “By depositing fully processed data, linked to well annotated anonymized patients in an easily accessible online database, we’re able to facilitate future JMML research and develop effective therapeutics.”

For details on some of the studies supported by these data, see the following publications:

• Stieglitz, Elliot et al. “The genomic landscape of juvenile myelomonocytic leukemia.” Nature genetics (47)11: 1326–1333, 2015, doi:10.1038/ng.3400
• Stieglitz, Elliot et al. “Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia.” Nature communications 8(1): 2127, 2017, doi:10.1038/s41467-017-02178-9
• Schönung, Maximilian et al. “International Consensus Definition of DNA Methylation Subgroups in Juvenile Myelomonocytic Leukemia.” Clinical cancer research : an official journal of the American Association for Cancer Research 27(1):158–168, 2021, doi:10.1158/1078-0432.CCR-20-3184
• Behnert, Astrid et al. “Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples.” Leukemia 36(1): 279­–282, 2022, doi:10.1038/s41375-021-01331-0
• Hecht, Anna et al. “Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.” Haematologica 107(1):178–186, 2022, doi:10.3324/haematol.2020.270595

Learn more about NCI’s CCDI and how this special initiative is helping to identify, collect, and share data to advance research on rare childhood cancers such as JMML.