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Objective:To explore the characteristics of gene mutations in patients with myelodysplastic syndromes (MDS) and the values of these mutations in prognosis assessment and curative effect prediction.Methods:The clinical data of 110 patients with newly diagnosed MDS who were admitted to Shanxi Bethune Hospital from January 2017 to December 2019 were retrospectively analyzed. The next-generation sequencing technology was used to detect mutations of 45 MDS-related genes. The patients' clinical features, results of laboratory tests, revised International Prognostic Points System (IPSS-R) scores and therapeutic responses to decitabine were analyzed and compared between the gene mutation and non-mutation groups.Results:Among 110 patients with MDS, 83.6% (92/110) of patients harbored at least one mutation. Thirty-eight gene mutations were detected, and the mutation rates of the most common mutations of ASXL1, TET2, TP53, and SF3B1 were 19.1% (21/110), 17.3% (19/110), 15.5% (17/110), and 12.7% (14/110). The IPSS-R scores of MDS patients with more mutations were higher ( F = 44.493, P < 0.01). The IPSS-R score of the SF3B1 mutation group was lower than that of the SF3B1 non-mutation group [(3.50±1.52) points vs. (4.76±1.58) points, t = -2.802, P = 0.006], and the IPSS-R score of the U2AF1 mutation group was higher than that of the U2AF1 non-mutation group [(5.78±1.39) points vs. (4.50±1.60) points, t = 2.320, P = 0.022], and the IPSS-R score of the TP53 mutation group was higher than that of the TP53 non-mutation group [(5.71± 2.24) points vs. (4.40±1.41) points, t = 2.329, P = 0.031]. There was no significant difference in IPSS-R scores between patients with and without other mutations (all P > 0.05). The overall response rate to decitabine in the TP53 mutation group was higher than that in the TP53 non-mutation group [83.3% (10/12) vs. 43.1% (22/51), χ2 = 6.280, P = 0.012], and the TP53 mutation group had a higher complete remission rate [50.0% (6/12) vs. 19.6% (10/51), χ2 = 4.736, P = 0.030]. Conclusions:Genetic mutations are common in MDS patients. Patients with SF3B1 mutation have a good prognosis, while those with U2AF1 and TP53 mutations have a poor prognosis, and patients with TP53 mutation have a high response rate to decitabine.
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Objective@#To compare the clinical efficacy and safety of bortezomib, cyclophosphamide, dexamethasone (VCD) regimen and bortezomib dexamethasone (VD) regimen in the treatment of the patients with newly diagnosed multiple myeloma (NDMM).@*Methods@#The clinical data of 73 patients with NDMM in Shanxi Dayi Hospital from January 2013 to January 2016 were retrospectively analyzed. According to the chemotherapy regimen, the patients were divided into VCD group (41 cases) and VD group (32 cases). The efficacy and adverse reactions of the two groups were evaluated.@*Results@#The overall response rate of VCD group and VD group was 80.5% (33/41) and 78.1% (25/32) respectively, and the difference was not statistically significant (χ 2= 0.061, P= 0.804); and complete remission (CR) rate was 36.6% (15/41) and 15.6% (5/32) respectively, and the difference was statistically significant (χ 2= 3.970, P= 0.046); the median progression-free survival (PFS) was 27 months and 24 months respectively, and the median overall survival (OS) was 35 months and 33 months respectively, and the differences were not statistically significant (all P > 0.05). Most adverse reactions occurred in grade 1-2, in which peripheral polyneuropathy and thrombocytopenia were the most common. Peripheral neuritis was the most common finding among the adverse reactions of grade 3. The incidence of adverse reactions in both groups was not statistically significant (P > 0.05).@*Conclusions@#VCD and VD regimen could be recommended as a better induction therapy for NDMM patients. Compared with VD scheme, VCD scheme has a higher CR rate.