[Clinical Characteristics of Acute Myeloid Leukemia Patients with RUNX1 Gene Mutation]

To investigate the incidence of Runt-related transcription factor 1 (RUNX1) gene and its associated gene mutations in patients with acute myeloid leukemia (AML), and analyze its clinical characteristics and prognosis.The genomic DNA-PCR method was used to detect the exon of RUNX1 gene, and the gene mutations were analyzed by genetic sequencing. NPM1, DNMT3A, FLT3-ITD, IDH1/2, K/N-RAS, CEPBA, TET2, and WT1 co-mutations were also detected. Patients were followed up to determine efficacy and prognosis.Among 171 patients, the RUNX1 gene mutation was detected in 17 cases, and the mutation rate was 9.9%. The type of RUNX1 gene mutation was 9 missense mutations, 4 frameshift mutations, and 4 nonsense mutations. The peripheral blood leukocyte count of the patients in mutation group was 3 (1-101) ×10AML patients with RUNX1 gene mutation shows unique clinical and biological characteristics, RUNX1 mutation can be regarded as a molecular marker of poor prognosis in AML patients.伴RUNX1基因突变急性髓系白血病患者临床特征的分析.探讨急性髓系白血病（AML）患者中RUNX1基因及其伴随基因突变的发生率，并分析其临床特征及预后。.采用基因组DNA-PCR方法扩增RUNX1基因外显子，应用基因测序分析其基因突变，同时检测NPM1、DNMT3A、FLT3-ITD、IDH1/2、K/N-RAS、CEPBA、TET2、WT1伴随突变的情况，随访患者并判定疗效和预后。.171例AML患者中，17例检测存在RUNX1基因突变，突变率为9.9%。RUNX1基因突变类型为错义突变9例，框移突变4例，无义突变4例，突变组患者初诊时外周血白细胞数[3（1-101）×10伴RUNX1基因突变的AML患者具有独特的临床及生物学特点，RUNX1基因突变可以作为AML患者预后不良的分子学标志。.