Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

Abstract excerpt

Refractory anemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a rare entity with characteristics of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). 1 Patients have been shown to be frequently JAK2V617F and SF3B1, and less commonly MPLW515, mutated (mut). 1-4 Gene mutations that have been occasionally analyzed in limited cohorts include TET2, ASXL1 and DNMT3A....

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