Objective: To explore the clinical outcomes and characteristics of -mutated primary myelodysplastic syndromes (MDS).
Methods: A total of 74 primary MDS patients who were diagnosed and treated in the Department of Hematology of our hospital from January 2018 and September 2021 were analyzed retrospectively. All patients had evaluable blood cell counts, mean corpuscular volume (MCV), lactate dehydrogenase (LDH), bone marrow (BM) morphology, biopsy, and MDS-related 20-gene mutations sequencing. In addition, 69 of 74 patients had complete cytogenetic analysis through conventional chromosome analysis and fluorescence hybridization.
Results: Patients were divided into two cohorts, the mutated type (TP53) group ( = 19) and wild type (TP53 group ( = 55). Compared with the TP53 group, patients in the TP53 group had higher ratios of cytogenetic abnormalities (82.4% vs. 30.8%, < 0.001), with 5q- karyotype (64.70% vs. 38.5%, < 0.001), complex karyotype(CK) (64.70% vs. 38.5%, < 0.001), HR-MDS (94.7% vs. 61.8%, = 0.008), and acute myelogenous leukemia (AML) transformation (26.3% vs. 12.7%, < 0.001). Interestingly, patients in the TP53 group had lower median MCV than the TP53 group (94.40 fl vs. 101.90 fl, 0.008). Furthermore, MCV = 100 fl as cutoff, and found that MCV ≤ 100 fl was more common in the TP53 group (73.7% vs. 38.2%, < 0.001). After 1-4 courses of HMA ± chemotherapy, the overall response rate of the TP53 group was higher than the TP53 group (83.3% vs. 71.4%, = 0.012). With the median follow-up 12.0 months (1-46 months), the results show that the median OS and leukemia-free survival (LFS) of TP53 group was significantly shorter than the TP53 group (= 0.0018; = 0.0310). Results of multivariate Cox proportional hazard analyses show mutation was an independent prognostic factor for the OS (HR 2.724, 95%CI 1.099-6.750, = 0.030).
Conclusion: -mutated primary MDS patients were associated with higher frequency of cytogenetic abnormalities, with 5q- karyotype, CK, AML transformation, higher risk IPSS-R, lower MCV and sensitive to HMA treatment, but worse survival.
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