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UCSF Database for the Advancement of JMML - Integration of Metadata with "Omic" Data
CCDI
Data Resource:  CCDI
Point of Contact:  
Elliot Stieglitz, MD,  
Project

About This Dataset
Juvenile myelomonocytic leukemia (JMML) is a rare and frequently fatal myeloproliferative/myelodysplastic disorder of early childhood with an estimated incidence of 1.2 cases per million. It is associated with a spectrum of diverse outcomes ranging from spontaneous resolution in rare patients to transformation to acute myeloid leukemia in others. The overwhelming majority of JMML patients (~95%) will harbor mutations in canonical Ras pathway genes, including NF1, NRAS, KRAS, PTPN11, and CBL. As Ras proteins are mutated in more than 30% of human cancers, the information gleaned from the study of JMML has provided insights into Ras signaling in cancer as well as a group of congenital diseases with tumor predispositions known as the "Rasopathies." While oncogenic Ras is one of the most common mutations in human cancer, it remains one of the most vexing targets for efficacious therapy.
Core Data Elements
Number of Cases
222
Case Sex
Female (78); Male (143); Unknown (1)
Case Age At Diagnosis
0 to 4 years (200); 5 to 9 years (13); 10 to 14 years (2); 25 to 29 years (1); Pediatric and Young Adult (<40 years) (6)
Case Race
American Indian or Alaska Native (1); White (6); Unknown (215)
Case Ethnicity
Unknown (222)
Case Disease Diagnosis
Juvenile Myelomonocytic Leukemia (222)
Case Tumor Site
Blood (222)
Number of Samples
438
Sample Assay Method
AMPLICON (246); Bisulfite Sequencing (142); Other (30); RNA Sequencing (112); Whole Exosome Sequencing (2); Whole Genome Amplification (5)
Sample Is Normal
Yes (47); No (391)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
1U54CA196519
Project 3: Efficacy of MEK Inhibition in Juvenile Myelomonocytic Leukemia
3P30CA082103-21S9
Cancer Center Support Grant
Published In
https://doi.org/10.1002/pbc.25342;https://doi.org/10.1038/ng.3400;https://doi.org/10.1038/s41467-017-02178-9;https://doi.org/10.1002/pbc.27034;https://doi.org/10.1002/pbc.27948
Charts
Male (143); Female (78); Unknown (1)
143Male