MUTATION,ASXL1基因突变,MUTATION基因变异,,急性髓系白血病(AML)患者中最常见的ASXL1突变是在没有FLT3-ITD和NPM1突变的情况下观察到的,并且似乎在老年患者中更为丰富(\u003E60岁)。这些突变与生存率和竞争缓解率预后不良相关。ASXL1 mutations are most frequent
mutation prioritizationvariants of unknown significanceKey Clinical Message In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation—present in 132 individuals in ExAC—as a ...
ASXL1 基因突变与药物 MUTATION EXON 12 MUTATION关于我们 “基因医生”项目,可以为肿瘤患者提供全流程逐级的治疗方案与治疗手段。本项目创始科学家团队在基础医学研究领域拥有丰厚实战经验,以NGS及RNA-SEQ基因检测技术为基础,通过对海量研究文献深入整理,归纳,再挖掘,再分析;依靠研究团队多年来对细胞信号通路,肿瘤免疫,...
Methods Mutation analysis of ASXL1 gene in 53 de novo MDS patientsand 20 healthy persons was performed by using polymerase chain reaction (PCR) followed by sequenceanalysis at DNA level. The clinical and laboratory characteristics were compared in MDS patients with ASXL1gene mutation and ASXL1 ...
HSCT. 2?year PFS rate and OS rate of transplantation group were significantly higher than that of chemotherapy group (P < 0.05). The 2?year OS rate in the low ASXL1 mutation load group (VAF ≤ 42.93%) was significantly higher than that in the high ASXL1 mutation load group (VAF > ...
The universality of ASXL1 mutation indicates that it is closely related to the occurrence and progress of myeloid neoplasms. In this paper, based on the current research data, the molecular structure and mutation characteristics of ASXL1 and its relationship with various myeloid tumors are reviewed....
采用Alphafold2和Chimerax软件对蛋白结构进行预测及可视化,采用Chimera软件、Mutation Taster网站进行蛋白结构比较及突变致病性、保守性分析。 结果 1.AML患者一般临床特征: 256例AML患者中男130例,女126例,中位年龄53(14~87)岁。初诊中位WBC 3.5(0.08~479.73)×10 9/L,HGB 66.5(7~148)g/L,PLT 37.5(0~483)×...
图2 髓系肿瘤患者ASXL1基因突变位点的棒棒糖图(n=384例) 绘图使用cBioportal生信分析工具Mutation Mapper完成[7,8] 2.2 预后影响因素分析 将性别、年龄、共突变基因个数、ASXL1突变位点、共突变基因(TET2、SRSF2、RUNX1、STAG2、EZH2、SF3B1、U2AF1、ZRSR、CBL、IDH2)纳入单因素及多因素分析,其中年龄、共突变基...
近日,来自美国得克萨斯大学健康科学中心的杨逢春教授研究团队在Leukemia杂志上发表了题为SRSF2 mutationcooperates with ASXL1 truncated alteration to accelerate leukemogenesis的文章,证实了ASXL1突变和剪切因子SRSF2突变的协同发生促进了髓系恶性肿瘤的疾病发展和白血病转化。该研究证明了ASXL1和SRSF2的协同突变促进了髓系...
The universality of ASXL1 mutation indicates that it is closely related to the occurrence and progress of myeloid neoplasms. In this paper, based on the current research data, the molecular structure and mutation characteristics of ASXL1 and its relationship with various myeloid tumors are reviewed....