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Li, B; Wang, J Y; Liu, J Q; Shi, Z X; Peng, S L; Huang, H J; Qin, T J; Xu, Z F; Zhang, Y; Fang, L W; Zhang, H L; Hu, N B; Pan, L J; Qu, S Q; Xiao, Z J
Zhōnghuá xuèyèxué zázhì, 2017-Dec-14, 20171214, Letnik: 38, Številka: 12Journal Article
To study the characteristics of gene mutations in Chinese myelodysplastic syndromes (MDS) patients. A total of 511 Chinese patients with MDS performed 112-gene targeted sequencing were retrospectively analyzed. Eighty-three distinct mutant genes were found in 511 patients with MDS. Amongst these, the most frequent mutations was associated with epigenetics (50%) , followed by spliceosome (37%) , signal transduction (34%) , transcription factors (24%) and cell cycle/apoptosis (17%) . 439 subjects (86%) had at least one gene mutation. The mean number of mutations in refractory anemia with unilineage dysplasia (RCUD) was 1.25, refractory anemia with multilineage dysplasia (RCMD) was 1.73, refractory anemia with ring sideroblasts (RARS) was 2.79, refractory anemia with excess blasts-1 (RAEB-1) was 2.22, RAEB-2 was 2.34, MDS with isolated 5q- was 2.67, MDS, unclassified (MDS-U) was 2.00. U2AF1 mutant subjects were more likely to have isolated+8 <0.001, =4.42 (95% 2.23-8.68) and less likely to have complex karyoty
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