论文部分内容阅读
目的 :探讨采用荧光原位杂交(l uorescence in situ hybridization,FISH)技术和传统细胞遗传技术在检测多发性骨髓瘤(multiple myeloma,MM)常见细胞遗传学异常中的意义,并分析评估这些细胞遗传学异常与临床预后之间的关系。方法 :分别采用FISH法[1q21、D13S319(13q14.4)、RB1(13q14.2)、IgH(14q32)和p53(17p13)共5种探针]和传统细胞遗传学的R显带染色体核型分析技术对40例初治MM患者进行检测,比较两者的差异,分析细胞遗传学异常对患者总生存期的影响。结果 :FISH检测结果显示,28例(70%)初治MM患者中至少具有一种细胞遗传学异常,最为常见的异常是IgH重排(45%),其次为1q21扩增(30%)、D13S319缺失(27.5%)、RB1缺失(25%)和p53缺失(10%)。多因素分析结果显示,伴有1q21扩增的患者总生存期较正常患者明显缩短(风险比=3.167,95.0%可信区间为1.245~8.061,P=0.016),提示预后较差。R显带染色体核型分析结果显示,40例初治MM患者中有11例(27.5%)具有染色体核型异常。FISH技术较染色体分析具有更高的异常检出率,敏感度更高(P<0.000 1)。结论 :FISH技术是检测初治MM中细胞遗传学异常的有效方法,较染色体核型分析有更高的敏感度,但两者不可相互取代;1q21扩增提示预后不良。
OBJECTIVE: To investigate the significance of fluorescence in situ hybridization (FISH) and conventional cytogenetic techniques in the detection of common cytogenetic abnormalities in multiple myeloma (MM) and to analyze and evaluate the significance of these cytogenetic Relationship between abnormalities and clinical prognosis. Methods: FISH method was used to detect the karyotype of R-banding chromosomes by FISH method [1q21, 5D13S319 (13q14.4), 5 RB1 (13q14.2), 5 IgH (14q32) and p53 (17p13) Analysis of 40 cases of newly diagnosed MM patients were tested, the difference between the two, analysis of cytogenetic abnormalities on the overall survival of patients. RESULTS: The FISH test showed that at least one cytogenetic abnormality was found in 28 (70%) newly diagnosed MM patients. The most common abnormalities were IgH rearrangement (45%) followed by 1q21 amplification (30%), D13S319 deletion (27.5%), RB1 deletion (25%) and p53 deletion (10%). Multivariate analysis showed that the overall survival of patients with 1q21 amplification was significantly shorter than that of normal patients (hazard ratio = 3.167; 95.0% confidence interval, 1.245-8.061, P = 0.016), suggesting a poor prognosis. R banding karyotype analysis showed that 40 cases of naive MM patients, 11 patients (27.5%) with chromosomal abnormalities. FISH has a higher detection rate of abnormalities than chromosomal analysis with higher sensitivity (P <0.000 1). Conclusion: FISH is an effective method to detect cytogenetic abnormalities in untreated MM, which is more sensitive than chromosomal karyotyping. However, they can not be replaced by each other. 1q21 amplification indicates a poor prognosis.