目的观察U2AF1基因突变的成人急性髓系白血病(AML)患者的临床特征及预后。方法对2016年1月至2019年12月就诊于郑州大学第一附属医院的690例AML患者的病历资料进行回顾性分析。按U2AF1突变与否将患者分为U2AF1未突变组(652例)和U2AF1突变...目的观察U2AF1基因突变的成人急性髓系白血病(AML)患者的临床特征及预后。方法对2016年1月至2019年12月就诊于郑州大学第一附属医院的690例AML患者的病历资料进行回顾性分析。按U2AF1突变与否将患者分为U2AF1未突变组(652例)和U2AF1突变组(38例)。比较两组临床特征及预后。结果690例AML患者中,U2AF1突变率为5.5%,常合并ASXL1、NRAS、SETBP1等基因突变。与U2AF1未突变组相比,U2AF1突变组外周血白细胞计数(WBC)、骨髓原始细胞比率低,预后中等及不良染色体核型多见,+8核型较多(P<0.05)。在625例可评估疗效的AML患者中,单因素分析发现,U2AF1突变组中位总生存期(OS)、中位无进展生存期(PFS)较U2AF1未突变组短,完全缓解(CR)率、2 a OS率较U2AF1未突变组低(P<0.05)。与未突变组相比,U2AF1 S34F突变组CR率较低,中位OS较短(P<0.05);两者中位PFS比较,差异无统计学意义(P>0.05)。U2AF1 S34Y突变组中位PFS较未突变组短(P<0.05);两者CR率、中位OS比较,差异无统计学意义(P>0.05)。多因素分析发现,U2AF1突变是影响<60岁AML患者OS、PFS的独立危险因素,1~2个疗程内达CR、接受造血干细胞移植、CEBPA双突变是影响<60岁AML患者OS及PFS的有利因素(P<0.05)。结论U2AF1突变在AML患者中发生率低,常与其他基因突变共存,预后中等及不良染色体核型多见。不同突变位点的预后意义不同。U2AF1突变是年轻(<60岁)AML患者的预后不良因素。展开更多
Objective To identify the mRNA sequence, genetic construction, imprinting status, and expression profile of human MURR1 gene, the homologue of mouse imprinted Murr1 gene. Methods The MURR1 mRNA sequence was identified...Objective To identify the mRNA sequence, genetic construction, imprinting status, and expression profile of human MURR1 gene, the homologue of mouse imprinted Murr1 gene. Methods The MURR1 mRNA sequence was identified by colony hybridization screening of human cDNA library and the 5'-RACE analyses; Absence of U2AF1-RS1 gene within MURR1 was confirmed by Southern Blotting; Expression profile of MURR1 was examined by Northern Blotting; The imprinting status of MURR1 were revealed by SNP investigation and RT-PCR followed by sequencings and RFLP analyses. Results The full-length mRNA sequence of MURR1 spans 711 bp, transcribed from 3 exons, encodes predicted MURR1 protein of 190 amino acids. The gene was expressed in all the 12 kinds of human adult tissues and 6 kinds of fetal tissues. It showed biallelic expression in all 32 investigated samples including 6 kinds of human fetal tissues and 8 adult brains. Unlike mouse imprinted U2af1-rs1 gene existing in the intron of Murr1, the human U2AF1-RS1 gene was not located in the MURR1 locus. Conclusion Human MURR1 gene is not imprinted and the non-imprinting is possible due to the absence of human homologue of mouse U2af1-rs1 within MURR1 locus.展开更多
文摘目的观察U2AF1基因突变的成人急性髓系白血病(AML)患者的临床特征及预后。方法对2016年1月至2019年12月就诊于郑州大学第一附属医院的690例AML患者的病历资料进行回顾性分析。按U2AF1突变与否将患者分为U2AF1未突变组(652例)和U2AF1突变组(38例)。比较两组临床特征及预后。结果690例AML患者中,U2AF1突变率为5.5%,常合并ASXL1、NRAS、SETBP1等基因突变。与U2AF1未突变组相比,U2AF1突变组外周血白细胞计数(WBC)、骨髓原始细胞比率低,预后中等及不良染色体核型多见,+8核型较多(P<0.05)。在625例可评估疗效的AML患者中,单因素分析发现,U2AF1突变组中位总生存期(OS)、中位无进展生存期(PFS)较U2AF1未突变组短,完全缓解(CR)率、2 a OS率较U2AF1未突变组低(P<0.05)。与未突变组相比,U2AF1 S34F突变组CR率较低,中位OS较短(P<0.05);两者中位PFS比较,差异无统计学意义(P>0.05)。U2AF1 S34Y突变组中位PFS较未突变组短(P<0.05);两者CR率、中位OS比较,差异无统计学意义(P>0.05)。多因素分析发现,U2AF1突变是影响<60岁AML患者OS、PFS的独立危险因素,1~2个疗程内达CR、接受造血干细胞移植、CEBPA双突变是影响<60岁AML患者OS及PFS的有利因素(P<0.05)。结论U2AF1突变在AML患者中发生率低,常与其他基因突变共存,预后中等及不良染色体核型多见。不同突变位点的预后意义不同。U2AF1突变是年轻(<60岁)AML患者的预后不良因素。
文摘Objective To identify the mRNA sequence, genetic construction, imprinting status, and expression profile of human MURR1 gene, the homologue of mouse imprinted Murr1 gene. Methods The MURR1 mRNA sequence was identified by colony hybridization screening of human cDNA library and the 5'-RACE analyses; Absence of U2AF1-RS1 gene within MURR1 was confirmed by Southern Blotting; Expression profile of MURR1 was examined by Northern Blotting; The imprinting status of MURR1 were revealed by SNP investigation and RT-PCR followed by sequencings and RFLP analyses. Results The full-length mRNA sequence of MURR1 spans 711 bp, transcribed from 3 exons, encodes predicted MURR1 protein of 190 amino acids. The gene was expressed in all the 12 kinds of human adult tissues and 6 kinds of fetal tissues. It showed biallelic expression in all 32 investigated samples including 6 kinds of human fetal tissues and 8 adult brains. Unlike mouse imprinted U2af1-rs1 gene existing in the intron of Murr1, the human U2AF1-RS1 gene was not located in the MURR1 locus. Conclusion Human MURR1 gene is not imprinted and the non-imprinting is possible due to the absence of human homologue of mouse U2af1-rs1 within MURR1 locus.
