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Ph-like急性淋巴细胞白血病致病基因的研究进展
引用本文:李增政,王娅婕,冯嘉昆,谭嘉斌,赵仁彬,杨同华.Ph-like急性淋巴细胞白血病致病基因的研究进展[J].中国实验血液学杂志,2020(2):695-699.
作者姓名:李增政  王娅婕  冯嘉昆  谭嘉斌  赵仁彬  杨同华
作者单位:昆明理工大学医学院;昆明理工大学附属云南省第一人民医院血液科;云南省血液疾病临床医学中心;云南省血液病医院
基金项目:国家自然科学基金(81700164);云南省科技厅-昆明医科大学应用基础研究联合专项资金项目(2018FE001(-156));云南省应用基础研究计划-面上项目(2018FB112);云南省卫生和计划生育委员会医学后备人才培养计划(H2017012);云南省血液疾病临床医学中心项目(2019LCZXKF-XY02,2019LLZXKFXY11)。
摘    要:费城染色体样急性淋巴细胞白血病(Philadelphia chromosome-like acute lymphoblastic leukemia,Ph-like ALL或BCR-ABL1-like ALL)是指基因表达谱与Ph阳性ALL相似,但缺乏BCR-ABL1融合的一类急性白血病。Ph-like ALL涉及多种基因组,激活激酶和细胞因子受体信号的改变。本文将针对近几年Ph-like ALL在JAK-STAT通路异常激活,ABL激酶通路基因异常,TKI在Ph-like ALL中的抗性,SH2B3基因的失活性突变,IKZF1基因异常的研究进展作一总结。并就新型致病基因(ATF7IP外显子9和PDGFRB外显子11之间的融合,PDGFRB外显子11-23与AGGF1基因外显子1-6融合造成的PDGFRBC843G突变等)的前沿最新进展作一综述。

关 键 词:费城染色体样急性淋巴细胞白血病基因  基因突变  基因重排  抗性

Research Progress on Pathogenic Genes of Ph-like Acute Lymphoblastic Leukemia--Review
LI Zeng-Zheng,WANG Ya-Jie,FENG Jia-Kun,TAN Jia-Bin,ZHAO Ren-Bing,YANG Tong-Hua.Research Progress on Pathogenic Genes of Ph-like Acute Lymphoblastic Leukemia--Review[J].Journal of Experimental Hematology,2020(2):695-699.
Authors:LI Zeng-Zheng  WANG Ya-Jie  FENG Jia-Kun  TAN Jia-Bin  ZHAO Ren-Bing  YANG Tong-Hua
Institution:(Medical College of Kunming University of Science and Technology,Kunming 650032;Department of Hematology,The First People′s Hospital Affiliated to Kunming University of Science and Technology,Kunming 650032;Clinical Medical Center for Blood Diseases in Yunan,Kunming 650032;Hematology and Blood Diseases Hospital Yunnan,Kunming 650032,Yunnan Province,China)
Abstract:Philadelphia chromosome-like acute lymphoblastic leukemia(Ph-like ALL or BCR-ABL1-like ALL)is a kind of acute leukemia which has the similar gene expression profiles and manifests the biological behavior same to Phpositive ALL,but lacks the BCR-ABL1 fusion gene.Ph-like ALL was involved in multiple abnormal changes of genomes,activating kinase and cytokine receptor signaling.This review focuses on the progress of classical genetic abnormalities of PH-like ALL in the JAK-STAT signaling,ABL kinase activation,TKI resistance in Ph-like ALL,SH2B3 gene inactivating mutation and IKZF1 gene abnormality.Besides,also summarizes the frontier progress of novel gene mutation(ATF7 IP exon 9 fused with PDGFRB exon 11,PDGFRBC843 G mutation caused by fusion of exon 11-23 of PDGFRB with exon 1-6 of AGGF1 gene)in recent years.
Keywords:Philadelphia chromosome-like acute lymphoblastic leukemia(Ph-like ALL)  gene mutation  gene rearrangement  resistance
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