Objective: To analyze the clinical characteristics and prognosis of patients with myelodysplastic syndrome (MDS) with a bone marrow nucleated erythroid cell proportion of greater than or equal to 50% (MDS-E) . Methods: The clinical characteristics and prognostic factors of patients with MDS-E were retrospectively analyzed by collecting the case data of 1 436 newly treated patients with MDS diagnosed in the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences from May 2014 to June 2023. Results: A total of 1 436 newly diagnosed patients with complete data were included in the study, of which 337 (23.5%) patients with MDS-E had a younger age of onset and lower neutrophil and platelet counts compared with those in patients with an erythroid cell proportion of less than 50% (MDS-NE) (all P<0.05). The proportion of MDS cases with ring sideroblasts (MDS-RS) was higher in the MDS-E group than in the MDS-NE group, and multi-hit TP53 mutations were more enriched in the MDS-E group than in the MDS-NE group (all P<0.05). Among patients with MDS-RS, the frequency of complex karyotypes and the TP53 mutation rate were significantly lower in the MDS-E group than in the MDS-NE group (0 vs 11.9%, P=0.048 and 2.4% vs 15.1%, P=0.053, respectively). Among patients with TP53 mutations, the frequencies of complex karyotypes and multi-hit TP53 mutations were significantly higher in the MDS-E group than in the MDS-NE group (87.5% vs 64.6%, P=0.003 and 84.0% vs 54.2%, P<0.001, respectively). Survival analysis of patients with MDS-RS found that the overall survival (OS) in the MDS-E group was better than that in the MDS-NE group [not reached vs 63 (95% CI 53.3-72.7) months, P=0.029]. Among patients with TP53 mutations and excess blasts, the OS in the MDS-E group was worse than that in the MDS-NE group [6 (95% CI 2.2-9.8) months vs 12 (95% CI 8.9-15.1) months, P=0.022]. Multivariate analysis showed that age of ≥65 years (HR=2.47, 95% CI 1.43-4.26, P=0.001), mean corpuscular volume (MCV) of ≤100 fl (HR=2.62, 95% CI 1.54-4.47, P<0.001), and TP53 mutation (HR=2.31, 95% CI 1.29-4.12, P=0.005) were poor prognostic factors independent of the Revised International Prognostic Scoring System (IPSS-R) prognosis stratification in patients with MDS-E. Conclusion: Among patients with MDS-RS, MDS-E was strongly associated with a lower proportion of complex karyotypes and TP53 mutations, and the OS in the MDS-E group was longer than that in the MDS-NE group. Among patients with TP53 mutations, MDS-E was strongly associated with complex karyotypes and multi-hit TP53 mutations, and among TP53-mutated patients with excess blasts, the OS in the MDS-E group was shorter than that in the MDS-NE group. Age of ≥65 years, MCV of ≤100 fl, and TP53 mutation were independent adverse prognostic factors affecting OS in patients with MDS-E.
目的： 分析骨髓红系比例≥50%的骨髓增生异常综合征（MDS-E）患者临床和实验室特征及预后。 方法： 收集2014年5月至2023年6月于中国医学科学院血液病医院确诊的1 436例MDS初治患者病例资料，回顾性分析MDS-E患者临床特征、分子学等实验室特征以及总生存（OS）情况。 结果： ①MDS-E患者共337例（23.5%），与骨髓红系比例<50%的MDS（MDS-NE）患者相比，发病年龄、ANC、PLT更低（P值均<0.05）。MDS-E中诊断伴环状铁粒幼红细胞增多的MDS（MDS-RS）患者比例更高，多打击TP53基因突变检出率更高（P值均<0.05）。②在MDS-RS患者中，与MDS-NE相比，MDS-E组复杂染色体核型比例显著减低（0对11.9%，P=0.048），TP53基因突变检出率更低（2.4%对15.1%，P=0.053）。③在TP53突变的MDS患者中，MDS-E患者复杂染色体核型比例（87.5%对63.3%，P=0.002）及多打击TP53突变检出率（84.0%对53.4%，P<0.001）均显著高于MDS-NE患者。④在MDS-RS患者中，MDS-E组的中位OS时间较MDS-NE组更长[未达到对63（95%CI 53~73）个月，P=0.029]。在TP53突变且原始细胞增多的MDS患者中，MDS-E组中位OS时间较MDS-NE组更短[6（95%CI 2~10）个月对12（95%CI 9~15）个月，P=0.022]。⑤多因素分析示，年龄≥65岁（HR=2.47，95%CI 1.43~4.26，P=0.001）、MCV≤100 fl（HR=2.62，95%CI 1.54~4.47，P<0.001）、TP53突变（HR=2.31，95%CI 1.29~4.12，P=0.005）是MDS-E患者独立于修订的国际预后积分系统（IPSS-R）预后分层的不良预后因素。 结论： MDS-RS患者中，MDS-E与更低的复杂染色体核型占比及TP53突变检出率相关，MDS-E组OS时间显著延长。TP53突变的MDS患者中，MDS-E与更高的复杂染色体核型占比和多打击TP53突变检出率相关，原始细胞增多伴TP53突变的患者中，MDS-E组OS时间显著缩短。年龄≥65岁、MCV≤100 fl及TP53突变是影响MDS-E患者生存的独立不良预后因素。.
Keywords: Erythroid cells; Myelodysplastic syndrome; Prognosis; Ring sideroblasts; TP53 gene.