Clinical characteristics and prognosis of patients with myelodysplastic syndrome with a bone marrow nucleated erythroid cell proportion of greater than or equal to 50%
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.