{"title":"急性髓系白血病患者基因突变特征、预后及生存分析","authors":"Miao He, Hong-Juan Tian, Dong-Feng Mao, Xiao-Chen Zhao, Shu-Ting Zhang, Fang-Qing Zhao, Tao Wu","doi":"10.19746/j.cnki.issn.1009-2137.2025.03.010","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.</p><p><strong>Results: </strong>Among the 92 patients, 41 were males and 51 were females. A total of 38 types of gene mutations were detected. Six-two patients carried at least one gere mutation, while no gene mutations were detected in 30 patients. In the group with favourable prognosis (<i>n</i> =14), the frequencies of higher gene mutations were <i>NRAS, KIT</i> (21.43%, <i>n</i> =3), <i>KRAS</i> (14.29%, <i>n</i> =2). In the group with intermediate prognosis (<i>n</i> =64), the gene mutation frequencies from high to low were <i>DNMT3A</i> (18.75%, <i>n</i> =12), <i>NPM1</i> (17.19%, <i>n</i> =11), <i>IDH2, FLT3-ITD, CEBPA</i> (12.50%, <i>n</i> =8), <i>TET2</i> (10.94%, <i>n</i> =7). In the poor prognosis group (<i>n</i> =14), <i>ASXL1, TP53, EZH2, NRAS</i> had higher gene mutation frequency than others(14.29 %, <i>n</i> =2 ). Statistical analysis revealed that <i>KIT</i> had a relative hotspot of mutations in the intermediate-risk group, and <i>DNMT3A</i> had a relative hotspot of mutations in the high-risk group (<i>P</i> < 0.05). The correlation analysis of genes with high mutation rates in different prognostic groups, such as <i>NRAS, KIT, IDH2, DNMT3A, NPM1</i>, and <i>FLT3-ITD</i>, with prognosis found that <i>KIT</i> was a factor affecting OS (<i>P</i> < 0.05), while no significant differences were observed for the others(<i>P</i> >0.05).</p><p><strong>Conclusion: </strong>The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. <i>KIT</i> and <i>DNMT3A</i> can be used as factors for evaluating the prognosis of AML.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 3","pages":"691-697"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Gene Mutation Characteristics, Prognosis and Survival Analysis of Patients with Acute Myeloid Leukemia].\",\"authors\":\"Miao He, Hong-Juan Tian, Dong-Feng Mao, Xiao-Chen Zhao, Shu-Ting Zhang, Fang-Qing Zhao, Tao Wu\",\"doi\":\"10.19746/j.cnki.issn.1009-2137.2025.03.010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.</p><p><strong>Results: </strong>Among the 92 patients, 41 were males and 51 were females. A total of 38 types of gene mutations were detected. Six-two patients carried at least one gere mutation, while no gene mutations were detected in 30 patients. In the group with favourable prognosis (<i>n</i> =14), the frequencies of higher gene mutations were <i>NRAS, KIT</i> (21.43%, <i>n</i> =3), <i>KRAS</i> (14.29%, <i>n</i> =2). In the group with intermediate prognosis (<i>n</i> =64), the gene mutation frequencies from high to low were <i>DNMT3A</i> (18.75%, <i>n</i> =12), <i>NPM1</i> (17.19%, <i>n</i> =11), <i>IDH2, FLT3-ITD, CEBPA</i> (12.50%, <i>n</i> =8), <i>TET2</i> (10.94%, <i>n</i> =7). In the poor prognosis group (<i>n</i> =14), <i>ASXL1, TP53, EZH2, NRAS</i> had higher gene mutation frequency than others(14.29 %, <i>n</i> =2 ). Statistical analysis revealed that <i>KIT</i> had a relative hotspot of mutations in the intermediate-risk group, and <i>DNMT3A</i> had a relative hotspot of mutations in the high-risk group (<i>P</i> < 0.05). The correlation analysis of genes with high mutation rates in different prognostic groups, such as <i>NRAS, KIT, IDH2, DNMT3A, NPM1</i>, and <i>FLT3-ITD</i>, with prognosis found that <i>KIT</i> was a factor affecting OS (<i>P</i> < 0.05), while no significant differences were observed for the others(<i>P</i> >0.05).</p><p><strong>Conclusion: </strong>The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. <i>KIT</i> and <i>DNMT3A</i> can be used as factors for evaluating the prognosis of AML.</p>\",\"PeriodicalId\":35777,\"journal\":{\"name\":\"中国实验血液学杂志\",\"volume\":\"33 3\",\"pages\":\"691-697\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国实验血液学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.03.010\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国实验血液学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.03.010","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
目的：基于新一代测序（NGS）基因检测分析新诊断急性髓性白血病（AML）患者的基因突变特征及生存时间。方法：回顾性分析2018年1月至2022年5月我院收治的92例急性髓性白血病（非APL）患者的临床资料。应用NGS检测AML相关基因，分析AML患者的突变特征及生存时间。结果：92例患者中，男性41例，女性51例。共检测到38种基因突变。6 - 2名患者携带至少一种基因突变，而30名患者未检测到基因突变。在预后良好组（n =14）中，较高基因突变频率为NRAS、KIT （21.43%, n =3）、KRAS （14.29%, n =2）。中等预后组（n =64）中，基因突变频率由高到低依次为DNMT3A （18.75%, n =12）、NPM1 （17.19%, n =11）、IDH2、FLT3-ITD、CEBPA （12.50%, n =8）、TET2 （10.94%, n =7）。在预后不良组（n =14）中，ASXL1、TP53、EZH2、NRAS基因突变频率高于其他组（14.29%,n =2）。统计分析发现，KIT在中危组有相对突变热点，DNMT3A在高危组有相对突变热点（P < 0.05）。不同预后组中高突变率基因NRAS、KIT、IDH2、DNMT3A、NPM1、FLT3-ITD与预后的相关性分析发现，KIT是影响OS的一个因素（P < 0.05），其他各组间差异无统计学意义（P < 0.05）。结论：AML患者基因突变频率高，67.4%的患者携带至少一种基因突变。不同核型患者不同基因的突变频率不同，存在明显的显性突变。KIT和DNMT3A可作为评价AML预后的因素。
[Gene Mutation Characteristics, Prognosis and Survival Analysis of Patients with Acute Myeloid Leukemia].
Objective: To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.
Methods: A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.
Results: Among the 92 patients, 41 were males and 51 were females. A total of 38 types of gene mutations were detected. Six-two patients carried at least one gere mutation, while no gene mutations were detected in 30 patients. In the group with favourable prognosis (n =14), the frequencies of higher gene mutations were NRAS, KIT (21.43%, n =3), KRAS (14.29%, n =2). In the group with intermediate prognosis (n =64), the gene mutation frequencies from high to low were DNMT3A (18.75%, n =12), NPM1 (17.19%, n =11), IDH2, FLT3-ITD, CEBPA (12.50%, n =8), TET2 (10.94%, n =7). In the poor prognosis group (n =14), ASXL1, TP53, EZH2, NRAS had higher gene mutation frequency than others(14.29 %, n =2 ). Statistical analysis revealed that KIT had a relative hotspot of mutations in the intermediate-risk group, and DNMT3A had a relative hotspot of mutations in the high-risk group (P < 0.05). The correlation analysis of genes with high mutation rates in different prognostic groups, such as NRAS, KIT, IDH2, DNMT3A, NPM1, and FLT3-ITD, with prognosis found that KIT was a factor affecting OS (P < 0.05), while no significant differences were observed for the others(P >0.05).
Conclusion: The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. KIT and DNMT3A can be used as factors for evaluating the prognosis of AML.
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