Immunophenotypic and Genetic Overlap between JMML and CMML

Conclusions:Our study demonstrates frequent variants in histone modification, splicing, and transcription-associated genes in JMML specimens in addition to known pathogenic RAS pathway mutations. We further report histopathologic CD123+ PDC clustering in JMML specimens analogous to that observed in CMML, which may aid in the workup of this often difficult-to-diagnose disease. Our findings of genetic and immunophenotypic overlap between JMML and CMML suggest similarities in pathogenesis despite typical presentation at extremes of age.DisclosuresTasian: Aleta Biopharmaceuticals: Membership on an entity's Board of Directors or advisory committees; Gilead Sciences: Research Funding; Incyte Corporation: Research Funding.

Source: Blood - November 21, 2018 Category: Hematology Authors: Cotner, C. E., Modi, M., Wertheim, G., Paessler, M., Tasian, S. K., Luo, M., Pillai, V. Tags: 636. Myelodysplastic Syndromes-Basic and Translational Studies: Poster I Source Type: research