Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Department of Hematology, The Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Clin Lymphoma Myeloma Leuk. 2020 May;20(5):329-339.e3. doi: 10.1016/j.clml.2020.01.005. Epub 2020 Jan 16.
Integrating the proportion of ring sideroblasts and SF3B1 mutation status is required for diagnosis of sideroblastic subgroups in myelodysplastic syndrome (MDS) as proposed by the World Health Organization 2016 classification. However, the clinical implications of SF3B1 mutation and ring sideroblasts in MDS-refractory cytopenia with multilineage dysplasia (MDS-RCMD) remain unclear.
Clinical and laboratory features in 238 MDS-RCMD patients were retrospectively analyzed, and the prognostic significance of SF3B1 mutation and ring sideroblasts on overall survival and leukemia-free survival in total MDS-RCMD patients and different subgroups stratified by the percentage of ring sideroblasts or SF3B1 mutation status were evaluated.
MDS-RCMD patients with ring sideroblasts ≥ 15% showed a significantly higher prevalence of SF3B1 mutation compared to ring sideroblasts 5%-14% or ring sideroblasts < 5% (75.6% vs. 15.1% vs. 6.4%, P < .001). In multivariate analysis, SF3B1 mutation was associated with a significantly prolonged survival (hazard ratio [HR] = 0.430, P = .013) and reduced leukemic transformation (HR = 0.174, P = .021) in total MDS-RCMD patients, while ring sideroblasts showed no independent effect on either survival or leukemic transformation. There were no significant differences in clinical characteristics or survival between MDS-RCMD patients with ring sideroblasts ≥ 15% and ring sideroblasts 5%-14% in the presence of SF3B1 mutation. Furthermore, SF3B1 mutation showed an independent prognostic effect on overall survival in MDS-RCMD patients with ring sideroblasts 5%-14% (HR = 0.195, P = .046).
SF3B1 mutation, not the presence of ring sideroblasts, identifies a distinct subtype and showed independent prognostic value on survival and leukemia transformation in MDS-RCMD patients.
2016 年世界卫生组织（WHO）分类提出，在诊断骨髓增生异常综合征（MDS）中的环形铁幼粒细胞亚型时，需要结合环形铁幼粒细胞的比例和 SF3B1 突变状态。然而，SF3B1 突变和 MDS 难治性血细胞减少伴多系发育异常（MDS-RCMD）中环形铁幼粒细胞的临床意义仍不清楚。
回顾性分析了 238 例 MDS-RCMD 患者的临床和实验室特征，并评估了 SF3B1 突变和环形铁幼粒细胞在总 MDS-RCMD 患者以及按环形铁幼粒细胞比例或 SF3B1 突变状态分层的不同亚组中的总生存和无白血病生存的预后意义。
MDS-RCMD 患者中环形铁幼粒细胞≥15%者 SF3B1 突变的发生率明显高于环形铁幼粒细胞 5%-14%或环形铁幼粒细胞<5%者（75.6%比 15.1%比 6.4%，P<0.001）。多变量分析显示，SF3B1 突变与总 MDS-RCMD 患者的生存显著延长相关（风险比[HR]为 0.430，P=0.013），白血病转化减少（HR 为 0.174，P=0.021），而环形铁幼粒细胞对生存或白血病转化无独立影响。在存在 SF3B1 突变的情况下，MDS-RCMD 患者中环形铁幼粒细胞≥15%与环形铁幼粒细胞 5%-14%之间的临床特征或生存无显著差异。此外，SF3B1 突变对环形铁幼粒细胞 5%-14%的 MDS-RCMD 患者的总生存具有独立的预后作用（HR 为 0.195，P=0.046）。
SF3B1 突变，而不是环形铁幼粒细胞的存在，确定了一个独特的亚型，并在 MDS-RCMD 患者的生存和白血病转化方面具有独立的预后价值。
