靶向测序检测511例骨髓增生异常综合征患者基因突变

OBJECTIVE: To study the characteristics of gene mutations in Chinese myelodysplastic syndromes (MDS) patients. METHODS: A total of 511 Chinese patients with MDS performed 112-gene targeted sequencing were retrospectively analyzed. RESULTS: 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[Q<0.001, OR=4.42 (95% CI 2.23–8.68)] and less likely to have complex karyotypes[Q=0.005, OR=0.22 (95% CI 0.04–0.72)]. According to the number of gene mutations, all subjects were categorized into three groups, namely group with 0–1 mutation, with 2 mutations and with three or more mutations. There was a significant difference in overall survival (OS) among three groups (P=0.041). CONCLUSION: About 90% patients with MDS have at least one gene mutation. Genes associated with epigenetics and spliceosome are most common mutated genes in MDS. The increased numbers of gene mutations accompany with disease evolution and associate with poor prognosis.