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急性髓系白血病FLT3-ITD基因突变分析 被引量:5

Mutation analysis of FLT3-ITD gene in acute myeloid leukemia
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摘要 目的:探讨初发急性髓系白血病(AML)患者FLT3-ITD基因突变情况。方法:选择2015年3月1日~2017年6月1日四川省人民医院血液科收治的初发急性髓系白血病患者207例,取入组患者骨髓标本。采用PCR法检测FLT3-ITD基因的突变情况;采用染色体R显带技术在获得相应染色体后制片、显带,每份标本自动挑选出20个分裂相对清晰的核型完成核型分析,并结合临床资料、随访及预后等进行分析,评价FLT3-ITD基因突变在急性髓系白血病患者中的价值。结果:207例AML患者的标本中42例存在FLT3-ITD基因突变,阳性率为20.29%。FLT3-ITD阳性患者中有3条显示带;42例FLT3-ITD基因突变阳性患者结果表明FLT3-ITD基因突变多依次首尾相接,并且其中插入多个核苷酸,但是所有的突变均为框内突变;根据FAB标准及WHO标准分级,42例FLT3-ITD阳性患者中M0占0.00%,M1占2.38%(1/42)、M2占23.81%(10/42)、M3占0.00%、M4占2.38%(1/42)、M5占69.05%(29/42)、M6占0.00%、M7占2.38%(1/42);FLT3-ITD阳性患者的白细胞(WBC)水平和完全缓解(CR)率均低于FLT3-ITD阴性患者(P<0.05)。结论:FLT3-ITD基因突变阳性患者的WBC水平和CR率低于阴性患者,能作为临床危险因素用于AML患者预后的判断。 AIM: To investigate the mutation of FLT3-ITD gene in the patients with newly diagnosed acute myeloid leukemia( AML). METHODS: From March 1,2015 to June 1,2017,207 patients with AML admitted to department of hematology,sichuan provincial people' s hospital were enrolled in this study. The bone marrow samples were collected from the patients. PCR was used to detect the mutation of FLT3-ITD gene. After the corresponding chromosome was obtained by R-banding,the cells were made into strips and banding. Twenty karyotypes with relatively cleavage were automatically selected from each specimen to complete karyotyping. By analysis of the clinical data and following-up the prognosis,the FLT3-ITD gene mutation in diagnostic and evaluative values for AML were performed. RESULTS: FLT3-ITD gene mutation was found in 42 cases of 207 AML patients,the positive rate was 20. 29 %. FLT3-ITD positive patients showed 3 bands. FLT3-ITD gene mutation in 42 patients with positive results showed that FLT3-ITD gene mutations in turn met the end to end,and insert a number of nucleotides,but all the mutations were in-frame mutations. According to the FAB and WHO standard,in 42 cases of FLT3-ITD positive positive patients,M0 accounted for 0. 00%,M1 accounted for2. 38%( 1/42),M2 accounted for 23. 81%( 10/42),M3 accounted for 0. 00%,M4 accounted for 2. 38%( 1/42),M5 accounted for 69. 05%( 29/42),M6 accounted for 0. 00%,M7 accounted for 2. 38%( 1/42). The white blood cell( WBC) level and complete response( CR) rate in FLT3-ITD positive patients were lower than those in FLT3-ITD negative patients( P〈0. 05). CONCLUSION: The WBC level and CR rate,which are lower in FLT3-ITD positive patients than those in negative patients,are the clinical risk factors. It will be helpful to determine the prognosis evaluation for AML patients.
作者 陈姣 王晓冬 贾永前 CHEN Jiao;WANG Xiao-dong;JIA Yong-qian(Department of Hematology,Sichuan Provincial People's Hospital,Chengdu 610072,China;Department of Hematology,West China Hospital,Sichuan University,Chengdu 610041,China)
出处 《中国病理生理杂志》 CAS CSCD 北大核心 2018年第6期1115-1118,共4页 Chinese Journal of Pathophysiology
基金 成都市科技惠民计划项目-科技惠民技术研发项目(No.2015-HM01-00470-SF)
关键词 FLT3-ITD基因 急性髓系白血病 预后评估 FLT3-ITD gene Acute mydoid leukemia Prognosis evaluation
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