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CNL
Vizome
Data Resource:  Vizome
Point of Contact:  
Jeffrey W. Tyner,  
Project

About This Dataset
Chronic neutrophilic leukemia (CNL), atypical chronic myeloid leukemia (aCML), and myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN-U) are a group of rare and heterogeneous myeloid disorders. There is strong morphologic resemblance among these distinct diagnostic entities as well as a lack of specific molecular markers and limited understanding of disease pathogenesis, which has made diagnosis challenging in certain cases. The treatment has remained empirical, resulting in dismal outcomes. We, therefore, performed whole-exome and RNA sequencing of these rare hematologic malignancies and present the most complete survey of the genomic landscape of these diseases to date. We observed a diversity of combinatorial mutational patterns that generally do not cluster within any one diagnosis. Gene expression analysis reveals enrichment, but not cosegregation, of clinical and genetic disease features with transcriptional clusters. In conclusion, these groups of diseases represent a continuum of related diseases rather than discrete diagnostic entities. The dataset presented in CCDC only includes pediatric and young adult cases.
Core Data Elements
Number of Cases
3
Case Sex
Female (3)
Case Age At Diagnosis
25 to 29 years (1); 35 to 39 years (2)
Case Race
Not Reported (3)
Case Ethnicity
Not Reported (3)
Case Disease Diagnosis
Chronic myelomonocytic leukemia, NOS (1); Myloproliferative neoplasm, unclassifiable (2)
Case Tumor Site
Bone Marrow (3)
Number of Samples
3
Sample Assay Method
Whole Exome Sequencing (3)
Additional Data Elements
DBGAP STUDY IDENTIFIER
DATA REPOSITORY
Grant Information
3P30CA069533-18S5
OHSU Knight Cancer Institute
U01CA217862
Functional Genomic Discovery of Pathway Targeted and Immune Modulatory Therapeutic Combinations in Hematologic Malignancies
U54CA224019
Architecture and Trajectory of Acquired Resistance to Therapy in AML
Published In
https://doi.org/10.1182/blood.2019000611
Charts
Female (3)
3Female