染色体核型和单核苷酸多态性检测对AML预后评估的临床分析  

Clinical analysis of chromosome karyotype and single nucleotide polymorphism array in prognostic evaluation of acute myeloid leukemia

作　　者：戴强生[1] 陈志勇[2] 张铂 龙健婷[1] 李鹤平[1] 

机构地区：[1]中山大学附属第一医院,广州510080 [2]福建医科大学附属龙岩第一医院,龙岩364000 [3]番禺何贤纪念医院,广州511400

出　　处：《新医学》2015年第11期737-742,共6页Journal of New Medicine

基　　金：广东省科技计划基金资助项目(2012B031800032)

摘　　要：目的探讨不同染色体核型及单核苷酸多态性(SNP)的急性髓系白血病(AML)患者、尤其是具有正常染色体核型患者预后的异同。方法应用G-显带技术和基于SNP的高分辨基因芯片(SNPa)对23例AML患者的骨髓进行检测,明确其染色体核型及SNP状况;观察患者的疾病转归,并分析患者疾病转归与其染色体信息变化的关系。结果在23例AML患者中,G-显带技术检测出11例伴有异常染色体核型,12例为正常染色体核型。SNPa检测出19例患者伴有基因信息异常,其中12例具有正常染色体核型的患者中有11例伴有SNP;这11例患者中有4例基因信息异常,表现为基因杂合性缺失(LOH)。12例具有正常染色体核型的AML患者中,有7例初次诱导即达完全缓解,经后续治疗存活至今;另有2例经再次诱导化学治疗后达完全缓解;还有3例初次诱导未达完全缓解,再次诱导化学治疗后因出现严重感染或内脏出血而死亡。11例具有异常染色体核型的AML患者中,有8例在初次诱导化学治疗后达完全缓解。经SNPa检测发现,23例AML患者中,5例具有LOH的患者有4例初次诱导不缓解可能与其合并有17或21号染色体长臂特定位点发生SNP有关。结论 SNPa可作为染色体核型分析的补充手段,对AML患者,特别是具有正常染色体核型患者可提供更为准确的预后评估。Objective To analyze G-banding karyotyping and single nucleotide polymorphism array （SNPa）method in evaluation of prognosis of acute myeloid leukemia （AML）,especially for those with normal chromosome karyotype.Methods G-banding karyotyping and SNPa analysis of the bone marrow from 23 AML patients were performed to detect the chromosome karyotype and SNP status.Clinical prognosis of those patients was observed and the relationship between clinical prognosis and alterations in chromosome genetic information was evaluated.Results Among 23 AML patients detected by G-banding karyotyping,11 were accompanied with abnormal chromosome karyotype and 12 were normal.At the same time,SNPa analysis revealed that 19 patients showed abnormal genetic information and four were normal.Eleven of the twelve patients with normal chromosome karyotype were accompanied by SNP,four of whom presented with loss of heterozygosity （LOH）. Among 12 patients with normal chromosome karyotype,seven gained complete remission after the first chemo-therapy induction,and still survived until now.Another two obtained complete remission following the second chemotherapy induction.Three patients failed to obtain complete remission after the first chemotherapy induc-tion and died of severe infection or hemorrhage after the second chemotherapy induction.Among 11 patients with abnormal chromosome karyotype,eight obtained complete remission after the first chemotherapy induction. SNPa indicated that four patients with LOH failed to gain complete remission,probably caused by the occur-rence of SNP in the specific sites of long arm of chromosome 17 or 21.Conclusion SNPa can serve as a com-plimentary tool in assessing the prognosis of AML,especially for those with normal chromosome karyotype.

关 键 词：急性髓系白血病 单核苷酸多态性 染色体核型分型 基因杂合性缺失 

分 类 号：R733.71[医药卫生—肿瘤]