净现值1
CEBPA公司
核型
桑格测序
髓系白血病
突变
三体8
基因突变
生物
遗传学
内科学
癌症研究
基因
肿瘤科
医学
染色体
作者
Wei Qin,Meiyu Chen,Xueting Cai,Hongying Chao,Jie Liu,Ningxin Jiang,Min Zhou,Xuzhang Lu,Suning Chen,Ri Zhang,Chunpeng He,Qian Wang
出处
期刊:PubMed
日期:2019-09-10
卷期号:36 (9): 857-861
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.09.001
摘要
To carry out mutation analysis for patients with myelodysplastic syndromes (MDS) and a normal karyotype.Targeted capture and next-generation sequencing (NGS) was carried out using a customized 49-gene panel. FLT3 internal tandem duplication (FLT3-ITD), CALR, NPM1 and CEBPA mutations were detected by PCR and Sanger sequencing.Sixty-two patients (80.5%) were found to harbor at least one mutation. Each patient has carried 2.21 mutations in average. Coexistence of ≥ 3 mutations was common (43.7%). The most commonly mutated genes were RUNX1 (23.4%, 18/77), ASXL1 (18.2%, 14/77), NPM1 (15.6%, 12/77), U2AF1 (15.6%, 12/77), DNMT3A (11.7%, 9/77). Patients with SF3B1 mutations were significantly older than those with ASXL1 mutations (P=0.023). Mutations of the DNMT3A gene were significantly associated with the blood platelet level compared with BCOR mutations (P=0.02). No significant difference was found in the number and rate of mutations between those under or above 60-year-old. Among 67 patients with clinical follow-up, 20 (29.8%) has transformed to acute myeloid leukemia, and the time of transformation has ranged from 1 to 44 months, with a average of 5.3 months. RUNX1, U2AF1 and FLT3 mutations are associated with leukemic transformation.Coexistence of ≥ 3 mutations are frequent among patients with normal-karyotype MDS. Certain mutations are associated with age and leukemic transformation.
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