Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes

Joseph A. Clara, David A. Sallman, Eric Padron


The myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are a unique group of hematologic malignancies characterizedby concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includesatypical chronic myeloid leukemia (aCML), chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia(JMML), MDS/MPN-unclassifiable (MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts andthrombocytosis (RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of nextgenerationplatforms has allowed for the recent molecular characterization of these diseases which has revealed unique andcomplex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis,prognostication, and treatment. Future goals of research should include the development of disease-modifying therapies, andfurther genetic understanding of the category will likely form the foundation of these efforts.


Myelodysplastic syndromes; myeloproliferative neoplasms; next-generation sequencing; CMML; aCML; JMML; MDS/MPN-U

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