摘要
目的:探讨FLT3跨膜区内部串联重复(FLT3/internal tandem duplication,FLT3/ITD)突变和染色体易位与急性髓性白血病预后的关系。方法:选取1998-03/2005-10中国医科大学及沈阳医学院附属医院血液科门诊或住院治疗的125例急性髓性白血病患者,均经形态学及骨髓活检确诊,所有患者均签署知情同意书。于治疗前抽取急性髓性白血病患者骨髓标本,短期培养法制备染色体标本,应用R显带技术进行核型分析,每例标本至少分析20个中期细胞。传统酚/氯仿/异丙醇法抽提DNA,调整浓度至200μg/L。针对FLT3基因内部重复串联结构主要发生在11号外显子,在11号外显子近端和远端分别设计引物11F和11R扩增产物133bp。采用PCR联合序列检测伴有或不伴有染色体易位的急性髓性白血病患者FLT3基因突变情况。结果:①染色体核型分析:125例患者中,46例证实存在不同类型染色体易位,总检出率36.8%。染色体易位的类型以t(1621)最多,为9例(19.78%),t(8,21)核型7例(15.22%),t(4,11)核型6例(13.04%),同时发现国内罕见的t(6,9)染色体易位3例(6.52%)。②PCR结合碱基测序检测FLT3基因表达及FLT3/ITD基因突变:46例染色体易位的样本中,31例FLT3基因表达,阳性率67.39%;而79例无染色体易位的样本中,56例FLT3基因表达,阳性率70.89%,两者比较差异无显著性意义(P>0.05)。两组样本FLT3/ITD基因突变阳性率分别为26.09%和11.39%(P<0.05)。③伴有或不伴有染色体易位FLT3/ITD突变阳性患者临床特征:伴有染色体易位FLT3/ITD突变阳性患者外周血白细胞、血红蛋白、血小板、骨髓粒细胞比例与不伴有染色体易位FLT3/ITD突变阳性患者均基本相似[(31.25±5.67)×109L-1,(28.98±7.56)×109L-1;(75.97±1.46)g/L,(70.16±8.46)g/L(71.38±12.51)×109L-1,(78.59±9.42)×109L-1;(7.91±1.28)%,(9.28±0.56)%;P均>0.05]。④伴有或不伴有染色体易位FLT3/ITD突变阳性与临床预后的关系:与不伴有染色体易位FLT3/ITD突变
AMI, To explore the relationship of FLT3/intemal tandem duplication （ITD） mutation and chromosome translocation with acute myeloid leukaemia （AML） prognosis. MESTHODS： 125 patients with AML were from the clinical patients or inpatients in Hematology Department of Affiliated Hospital of Chinese Medical University and Shenyang Medical College from March 1998 to October 2005, and they were all diagnosed by morphology and bone marrow biopsy. All patients signed the informed consent. Bone marrow samples were isolated from AML patients before the treatment. Chromosome samples were prepared by short-term cultivation, Karyotypes were analyzed by R banding technique. At least 20 middle-stage cells were analyzed in each sample. Genomic DNA was extracted according to the traditional phenol/chloroform procedure. The concentration were regulated to 200 p,g/L. Pdmer 11F and 11R were designed at the two ends of exon 11 as the main occurrence location of FLT3/ITD, and 133 bp amplified product was desired. Using genomic PCR and sequencing, FLT3/ITD mutation with or without chromosome translocation were examined in AML patients. RESULTS： （1）Chromosome karyotype analysis： Chromosome translocation existed in 46 （125） samples with various styles. The total detection rate was 36.8%. In various chromosome translocation styles, t （16,21） occurred in 9 samples with highest rate （19.78%）, and the others were t （8,21） in 7 samples, t（4,11） in 6 samples with the occurrence rate （15.22%, 13.04% respectively）. Besides, t （6,9） was inspected in 3 samples that were seldom found domestically （6.52%）. （2） FLT3/ITD mutation with or without chromosome translocation was examined by genomic PCR and sequencing. In 46 samples with chromosome translocation, FLT3 gene expression was inspected in 31 samples, and the positive rate was 67.39%. But, in 79 samples without chromosome translocation, FLT3 gene expression was inspected in 56 samples, and the positive rate was 70.89%. There was no significant d
出处
《中国组织工程研究与临床康复》
CAS
CSCD
北大核心
2007年第7期1235-1238,共4页
Journal of Clinical Rehabilitative Tissue Engineering Research
