Clinical study of gene mutations in patients with myelodysplastic syndromes / 白血病·淋巴瘤

ABSTRACT

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.