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The current World Health Organization (WHO) classification of myeloid malignancies includes myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) as a distinct entity. Previous literature on predictors of survival was based on the provisional category of refractory anemia with ring sideroblast and thrombocytosis (RARS-T), which was not subject to MDS/MPN-RS-T exclusionary criteria such as PB blast% ≥1, BM blast% ≥5 or cytogenetic abnormalities such as t(3;3)(q21.2;q26.2), inv(3)(q21.23q26.2) or isolated del(5q). We examined overall (OS) and leukemia-free (LFS) survival and its predictors, among 158 patients with WHO-defined MDS/MPN-RS-T. In univariate analysis, age ≥70 years ( P  = 0.006), hemoglobin (Hb) ≤10 g/dL ( P  = 0.03) and abnormal karyotype (excluding -Y,  P  = 0.008) were associated with shortened OS, which was otherwise not affected by either  ASXL1  ( P  = 0.7),  SF3B1 (P  = 0.4 )  or  JAK2  V617F  (P  = 0.7 )  mutations; in multivariable analysis, Hb ≤ 10 g/dL ( P  = 0.03) and abnormal karyotype ( P  = 0.001) remained significant, and thus allowed the development of an operational survival model with low (0 risk factors, median OS 10.5 years), intermediate (1 risk factor, median OS 4.8 years) and high risk (2 risk factors, median OS 1.4 years) categories ( P  = 0.0009). Comparison of MDS/MPN-RS-T ( n  = 158) and MDS/MPN-U with BM RS ≥ 15% (MDS/MPN-U-RS;  n  = 25) did not reveal significant differences in frequency of thrombosis, OS, or LFS, although  SF3B1  mutation frequency was higher in the former (93% versus 59%;  P  = 0.0005). These data suggest limited survival impact for molecular abnormalities and the morphological distinction between MDS/MPN-RS-T and MDS/MPN-U-RS.

blood cancer journal

Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients