Somatic mutationTP53 mutationSurvivalWe investigated the prognostic role of somatic mutations in allogeneic hematopoietic cell transplantation (HCT) for de novo myelodysplastic syndrome (MDS). We performed targeted deep sequencing analysis of 26 genes on bone marrow samples obtained within 6 weeks before ...
首先,根据WHO第五版诊断标准,该患者可诊断为AML-MR。诊断依据为外周血原始细胞≥20%,具有MDS相关遗传学异常(见表1,本例为复杂核型)且排除AML伴重现性遗传学异常。 而根据国际共识分类(ICC),该患者则诊断为AML伴TP53突变(见表2)。本例无法满足PEL的诊断标准,但外周血原始细胞比例为35%,满足AML的要求,因存在TP5...
因此,TP53突变状态不影响HMA治疗MDS的反应率,而对HMA治疗有克隆反应可显著延长MDS患者的OS。 目前无直接比较阿扎胞苷和地西他滨在治疗MDS中疗效的研究,但阿扎胞苷是目前唯一证实可延长患者OS的去甲基化药物。一项回顾性研究显示[11],年龄大于65岁的MDS患者接受阿扎胞苷治疗后的OS显著优于地西他滨,且根据IPSS预后分层...
Missense mutations in the DNA-binding domain were most common across all categories, whereas inactivating mutations and mutations outside the DNA binding domain were more common in AML-MRC than in MDS. TP53 mutations in MDS were more likely to retain transcriptional activity, and comutation ...
首先,根据WHO第五版诊断标准,该患者可诊断为AML-MR。诊断依据为外周血原始细胞≥20%,具有MDS相关遗传学异常(见表1,本例为复杂核型)且排除AML伴重现性遗传学异常。 而根据国际共识分类(ICC),该患者则诊断为AML伴TP53突变(见表2)。本例无法满足PEL的诊断标准,但外周血原始细胞比例为35%,满足AML的要求,因存在TP5...
Complex karyotype (CK), occurring in 10–15% of adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) cases, is associated with poor prognosis and frequently co-occurs withTP53mutation [1,2,3].TP53mutations correlate with dismal outcomes regardless of the type of therapy received...
TP53 mutations are well described in human malignancies with up to 50% of all cancers harboring a mutation in the DNA-binding domain or in one of its regulators affecting p53 function.11,12 In MDS, TP53 gene mutations are found almost exclusively in patients with chromosome 5q deletion or a...
该成果以“Combined Spiral Transformation and Model-driven Multi-modal Deep Learning Scheme for Automatic Prediction of TP53 Mutation in Pancreatic Cancer”为题,于2020年11月4日在线发表在影像领域顶刊《IEEE Transactions on Medical Imaging》(TMI)上。本文第一作者是二年级研究生陈夏晗,通讯作者是钱晓华。
Results Of the 63 patients (26M/37F), 23.8% were found to have TP53 mutation. Majority had isolated del(5q) (85%) with the remaining del(5q) plus other aberration(s) but not meeting criteria as complex. A total of 43 patients (68.3%) received lenalidomide (73.3% TP53 MT and 66.7...
with wild type TP53 MDS patients with TP53 mutation respond equally to hypomethylating agents (HMA) but has significantly shorter response duration compared to patients with wild type TP53MDS patients with TP53 mutation respond equally to hypomethylating agents (HMA) but has significantly shorter ...