嵌合体突变(mosaic mutation):在胚胎发育过程中发生的突变,导致人体部分细胞呈现基因的嵌合,又称奇美拉现象。相对少见,在此不赘述。 04突变比例(VAF) TP53基因突变比例(Variant Allele Frequency,VAF): VAF<10%,反映病变组织中TP53突变负荷低,其不良预后意义会削弱。例如,NCCN指南强调,将伴TP53突变的AML归为预后高危...
嵌合体突变(mosaic mutation):在胚胎发育过程中发生的突变,导致人体部分细胞呈现基因的嵌合,又称奇美拉现象。相对少见,在此不赘述。 04突变比例(VAF) TP53基因突变比例(Variant Allele Frequency,VAF): VAF<10%,反映病变组织中TP53突变负荷低,其不良预后意义会削弱。例如,NCCN指南强调,将伴TP53突变的AML归为预后高危...
Aims 1. Determine the frequency of TP53 mutations (TP53mut) and TP53 deletions (TP53del) in a large cohort of AML. 2. Analyze the relation of TP53mut and TP53del with cytogenetics and other molecular mutations. 3. Evaluate the impact of TP53 alterations on outcome. Patients and methods In...
2022年ELN指南对AML分类进行了更新,引入新的基因定义实体,包括“具有TP53突变的AML”,其中TP53突变频率VAF(突变变异等位基因频率)>10%,并对AML预后危险分层也进行了更新,首次增加了TP53定量信息:TP53突变频率VAF>10%才提示预后不良[3]。 图1.2022版ELN预后分层[...
与TP53野生型(TP53wt) 患者相比,TP53m AML患者由于对标准 AML 治疗耐药,总生存期 (OS) 较低,化疗联合或不联合异基因造血干细胞移植 (allo-HSCT) 后的复发率也增加。除 TP53 基因功能缺失突变外,染色体 17p(del17p) 缺失的影响也...
中文摘要TP53异常AML/MDS预后模型构建及CAR-T细胞治疗TP53异常B-ALL的疗效评估 2、独立预后因素筛选:通过多因素COX回归筛选TP53异常AML/MDSOS的 独立保护因素包括TP53热点突变[HR=0.55(95%CI0.34-0.87),P=0.011]、TP53变 异等位基因频率(variantallelfrequency,VAF)≤5%[HR=0.35(95%CI0.16-0.74), ...
magrolimab would be the first TP53-specific mutationally-directed approval that we have seen in myeloid malignancies,” Daver said in an interview with Targeted Therapies in Oncology™.“There’s a lot of enthusiasm based on previous results both in myelodysplastic syndrome (MDS) and AML.” ...
The impact of TP53 mutations and TP53 deletions on survival varies between AML,ALL,MDS and CLL:An analysis of 3307cases. STENGEL A,KERN W,HAFERLACH T,et al. Leukemia . 2017Stengel A, Kern W, Haferlach T, Meggendorfer M, Fasan A, Haferlach C. The impact of TP53 mutations and TP53 ...
急性髓系白血病(acute myeloid leukemia, AML)中,TP53基因异常与复杂核型(complex karyotype,CK)高度相关,70%的CK-AML存在TP53基因异常(突变和缺失分别占60%和40%),且TP53基因突变与老年、基因组复杂性、特定DNA拷贝数变异、单体核型以及不良预后相关。至少2/3...
AML/MDS-IB (KUMC cohort,P = 0.005) (Supplementary Fig.S3A). Within the CK group, the presence ofTP53mutation was associated with reduced survival in the BeatAML cohort (P = 0.001) (Supplementary Fig.S3B).TP53mutation did not significantly affect outcomes in the AML/MDS-IB group...