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.
目前世界卫生组织（WHO）的髓系肿瘤分类将伴有环形铁粒幼细胞和血小板增多的骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN-RS-T）列为一个独立病种。先前关于生存预测因素的研究基于暂定类别“伴环形铁粒幼细胞和血小板增多的难治性贫血（RARS-T）”，该类别未应用MDS/MPN-RS-T的排除标准，例如外周血原始细胞比例≥1%、骨髓原始细胞比例≥5%，或存在t(3;3)(q21.2;q26.2)、inv(3)(q21.23q26.2)等细胞遗传学异常或孤立性del(5q)。我们对158例符合WHO标准的MDS/MPN-RS-T患者的总生存期（OS）、无白血病生存期（LFS）及其预测因素进行了分析。单变量分析显示，年龄≥70岁（P=0.006）、血红蛋白（Hb）≤10 g/dL（P=0.03）和异常核型（除外-Y，P=0.008）与OS缩短相关，而ASXL1（P=0.7）、SF3B1（P=0.4）或JAK2 V617F（P=0.7）突变对OS无影响；多变量分析中，Hb≤10 g/dL（P=0.03）和异常核型（P=0.001）仍具有显著性，据此建立了包含低危（0个危险因素，中位OS 10.5年）、中危（1个危险因素，中位OS 4.8年）和高危（2个危险因素，中位OS 1.4年）分层的实用生存预测模型（P=0.0009）。比较MDS/MPN-RS-T（158例）与伴有骨髓环形铁粒幼细胞≥15%的MDS/MPN-U（MDS/MPN-U-RS；25例）患者，尽管前者SF3B1突变频率更高（93%对比59%；P=0.0005），但血栓发生率、OS或LFS均无显著差异。这些数据表明分子异常对生存影响有限，且MDS/MPN-RS-T与MDS/MPN-U-RS的形态学区分意义不大。
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