将分子数据添加到预后模型中改善了骨髓增生异常肿瘤（MDS）的风险分层。然而，分子病变的作用，特别是在低风险疾病（LR-MDS）组中的作用，尚不确定。我们评估了 227 名 LR-MDS 患者。总生存期（OS）和白血病进展的概率是主要终点。 RUNX1 与较低的 OS 相关，SF3B1 与较低的死亡风险相关（HR：1.7，95% CI，1.1-2.9；p = 0.05；HR：0.23，95% CI 0.1-0.5；p< 0.001；分别）。 TP53 和 RUNX1 突变是白血病进展概率的预测协变量 (p<<0.001)。原始细胞百分比，既不作为分类分析（<5% vs. 5%-9%；HR：1.3，95% CI，0.7-2.9；p = 0.2），也不作为连续变量分析（HR：1.07，95% CI，0.9） -1.1；p = 0.07），对生存或进展概率有影响（sHR：1.05，95% CI，0.9-1.1；p = 0.2）。当分析仅限于根据 WHO 2022 和 ICC 分类（<5% 原始细胞）的 LR-MDS 定义时，这些结果保留了统计显着性。因此，随着分子数据的纳入，原始细胞百分比恰好失去了 LR-MDS 患者组的生存率和进展概率的临床意义。© 2024 作者。英国血液学杂志由英国血液学会和约翰·威利出版

Addition of molecular data to prognostic models has improved risk stratification of myelodysplastic neoplasms (MDS). However, the role of molecular lesions, particularly in the group of low-risk disease (LR-MDS), is uncertain. We evaluated a set of 227 patients with LR-MDS. Overall survival (OS) and probability of leukaemic progression were the main endpoints. RUNX1 was associated with lower OS and SF3B1 with a reduced risk of death (HR: 1.7, 95% CI, 1.1-2.9; p = 0.05; and HR: 0.23, 95% CI 0.1-0.5; p < 0.001; respectively). TP53 and RUNX1 mutations were predictive covariates for the probability of leukaemic progression (p < 0.001). Blast percentage, neither analysed as categorical (<5% vs. 5%-9%; HR: 1.3, 95% CI, 0.7-2.9; p = 0.2) nor as a continuous variable (HR: 1.07, 95% CI, 0.9-1.1; p = 0.07), had impact on survival or probability of progression (sHR: 1.05, 95% CI, 0.9-1.1; p = 0.2). These results retained statistical significance when analysis was restricted to the definition of LR-MDS according to the WHO 2022 and ICC classifications (<5% blasts). Thus, with the incorporation of molecular data, blast percentage happens to lose clinical significance both for survival and probability of progression in the group of patients with LR-MDS.© 2024 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.