文章：

中危急性髓系白血病的突变谱和预后分层

Mutational spectrum and prognostic stratification of intermediate-risk acute myeloid leukemia 

原文发布日期：2018-06-15 

英文摘要：

The mutational spectrum and prognostic stratification of intermediate-risk acute myeloid leukemia (IR-AML), which accounts for a substantial number of AML, are unclear. In order to explore the prognostic significance of the mutational spectrum in IR-AML, 106 IR-AML patients were collected from The Cancer Genome Atlas database. Sixty-two patients underwent chemotherapy-only, forty-four proceeded to allogeneic hematopoietic stem cell transplantation (allo-HSCT). Fifty-five patients had more than five recurrent genetic mutations. NPM1 had the highest mutation frequency, followed by DNMT3A, FLT3, RUNX1, IDH2, IDH1, and TET2. In all patients, allo-HSCT was an independent favorable factor for EFS and OS (P = 0.036, P = 0.001, respectively); age ≥60 years, FLT3-ITD and mutations in DNMT3A and RUNX1 were independent risk factors for survival (all P < 0.05). In the chemotherapy-only group, multivariate analysis showed that age ≥60 years was an independent risk factor for EFS and OS (P = 0.008, P = 0.017, respectively). In the allo-HSCT group, multivariate analysis indicated that MLL-PTD was an independent risk fact for EFS (P = 0.037), FLT3-ITD and RUNX1 mutations independently contributed to poor OS (P = 0.035, P = 0.014, respectively). In conclusion, older age was an important risk factor for IR-AML patients undergoing chemotherapy-only; FLT3-ITD, MLL-PTD and RUNX1 mutations were significant risk factors for IR-AML patients who received allo-HSCT. 

摘要翻译： 

中等风险急性髓系白血病（IR-AML）在AML中占比重大，但其突变谱系及预后分层尚不明确。为探究IR-AML突变谱系的预后意义，本研究从癌症基因组图谱（TCGA）数据库中纳入106例IR-AML患者，其中62例接受单纯化疗，44例接受异基因造血干细胞移植（allo-HSCT）。55例患者存在5种以上复发性基因突变，NPM1突变频率最高，其次为DNMT3A、FLT3、RUNX1、IDH2、IDH1和TET2。整体分析显示：allo-HSCT是无事件生存期（EFS）和总生存期（OS）的独立有利因素（P=0.036；P=0.001）；年龄≥60岁、FLT3-ITD及DNMT3A/RUNX1突变是独立危险因素（均P<0.05）。单纯化疗组多因素分析显示：年龄≥60岁是EFS与OS的独立危险因素（P=0.008；P=0.017）。allo-HSCT组多因素分析表明：MLL-PTD是EFS的独立危险因素（P=0.037），FLT3-ITD和RUNX1突变是OS的独立危险因素（P=0.035；P=0.014）。结论：高龄是接受单纯化疗IR-AML患者的重要风险因素；FLT3-ITD、MLL-PTD及RUNX1突变则是接受allo-HSCT患者的显著风险因素。

原文链接：

Mutational spectrum and prognostic stratification of intermediate-risk acute myeloid leukemia