Journal
BLOOD
Volume 134, Issue 11, Pages 867-879Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood.2019000611
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Funding
- National Cancer Institute, National Institutes of Health [R00-CA190605, 1U01CA217862-01, 1U54CA224019-01, 3P30CA069533-18S5, 5R00CA151457-04, 1R01CA183947-01]
- V Foundation for Cancer Research
- Gabrielle's Angel Foundation for Cancer Research
- Medical Research Foundation
- Collins Trust Award
- K99 Career Transition Award (National Institutes of Health, National Cancer Institute) [1K99CA237630-01]
- ASH Scholar Award
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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.
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