13号染色体、p53基因缺失与多发性骨髓瘤的相关性研究  

Investigation of correlation between chromosome 13, p53 gene deletion and clinical profile in patients with multiple myeloma

作　　者：李江涛[1,2] 赵永强[1] 常乃柏[2] 刘辉[2] 裴蕾[2] 

机构地区：[1]中国医学科学院北京协和医院血液内科,100730 [2]卫生部北京医院血液内科

出　　处：《白血病．淋巴瘤》2009年第9期548-550,共3页Journal of Leukemia & Lymphoma

摘　　要：目的分析13号染色体、p53基因缺失与多发性骨髓瘤（MM）患者临床特点、治疗效果和生存期的相关性。方法采用荧光原位杂交（FISH）技术检测22例MM患者del 13q14（R1。基因缺失）、p53基因缺失的情况，收集其临床资料，比较基因缺失组与基因正常组间的差异。结果22例患者中，9例（40．9％）为p53基因缺失，其中Ⅰ期0例，Ⅱ期2例（40．0%）,Ⅲ期7例（50．0％）。8例（36．4％）患者为RB．基因缺失，其中Ⅰ期0例，Ⅱ期3例（60．0％），Ⅲ期5例（35．7％）。基因缺失组与基因正常组比较，患者的年龄、性别、分型、分期、肾功能、血细胞计数、C反应蛋白（CRP）、乳酸脱氢酶（LDH）、血钙均无差异。但初诊时骨髓瘤细胞比例，p53基因正常组明显高于缺失组（P=0．043）。22例患者治疗后共获得CR5例，非常好的部分缓解（VGPR）7例，PR6例，无效4例，总有效率为81．8％。p53基因缺失组与正常组平均生存时间分别为11和47个月（P=0．086）。RB，基因缺失组和正常组平均生存时间分别为14．9和43．3个月（P=0．612）。2个基因均缺失组与正常组相比，平均生存期分别为9．4和45．4个月（P=0．13）。结论细胞遗传学的异常与MM患者的生存期具有显著的相关性。对于具有与不良预后相关的染色体异常的患者，传统化疗效果较差，应给予硼替佐米等新药治疗。Objective To evaluate the correlation between the del （13q14）, p53 gene deletion and clinical manifestations, treatment efficacy and survival duration for multiple myeloma. Methods The clinical information and blood samples of patients with multiple myeloma were collected, and the positive rate of genetic deletion of 13q14, p53 via FISH were detected, to calculate the statistical difference between the patients with normal gene and those with genetic deletion. Results Nine of the 22 patients （40.9 %） totally evaluated were detected positive for p53 gene deletion, among whom none is in Phase I, 2 cases in Phase （40.0 %）, and 7 in Phase Ⅲ （50.0 %）. Eight patients of the. total patients （36.4 %） were found to have del 13q14, with 3 cases in phase Ⅱ（60.0 %）, 5 cases in Phase Ⅲ （35.7 %） while no one in Phase Ⅰ. Four patients have the both gene mutation, and 9 patients have neither abnormal genosome. There was no difference of demographic and disease characters between genetic deletion group and the normal ones, such as ages, gender, disease type/phase, renal function, blood cell counting, LDH and serum calcium. But the myeloma cells rate is statistically higher in normal group than in the group with p53 genetic deletion [（52.25± 25.4） % vs （31.1±12.9） %, P =0.043] at the first diagnosis. Five patients treated got complete remission, 7 patients very good partial remission, 6 patients partial remission, 4 patients no response, thus the total effective rate was up to 81.8 %. Four among the six patients who were treated with bortezomib reached complete remission and 1 got very good partial remission. The mean survival duration was 11 months and 47 months in p53 genetic deletion group and normal group, respectively（P =0.086）, 14.9 months and 43.3 months in del 13q14 group and normal ones, and 9.4 months and 45.4 months （P =0.13） in the patients with both genetic deletions and the normal groups （P =0.13）. Conclusion There was a statistically significant relationship

关 键 词：多发性骨髓瘤 染色体 原位杂交 荧光 治疗 

分 类 号：R733.3[医药卫生—肿瘤]