间期荧光原位杂交检测多发性骨髓瘤13号染色体长臂缺失和免疫球蛋白重链基因易位  

Detection of Deletion of the Long Arm of Chromosome 13 and Translocation of Immunoglobulin Heavy Chain Gene by Interphase Fluorescence In Situ Hybridization in Patients with Multiple Myeloma

作　　者：孙婉玲[1] 武永吉[1] 李辉[1] 汪玄[1] 庄俊玲[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院血液科

出　　处：《中国医学科学院学报》2008年第4期485-490,I0004,共7页Acta Academiae Medicinae Sinicae

摘　　要：目的探讨多发性骨髓瘤（MM）患者13号染色体长臂缺失[del（13q）]和免疫球蛋白重链（IGH）基因易位[t（14q）]的临床价值。方法采用直接免疫磁珠法分选骨髓瘤细胞,应用间期荧光原位杂交（FISH）技术对24例MM患者进行del（13 q）和t（14 q）的检测。结果11例（45.83%）为del（13 q）、9例（37.50%）为t（14q）,5例（20.83%）为两个位点均异常、15例（62.50%）为至少1个位点异常。单因素分析显示,治疗有效组（n=14）del（13q）的阳性率为35.71%、无效组（n=9）为66.67%,两组比较差异无显著性（P=0.214）;治疗有效组t（14q）的阳性率为21.43%、无效组为66.67%,两组比较差异无显著性（P=0.077）。多因素分析显示,del（13q）（OR=5.761,95%CI 0.500-66.391,P=0.160）、t（14q）（OR=6.576,95%CI 0.580-74.614,P=0.129）和校正血清钙水平（OR=8.080,95%CI 0.738-88.427,P=0.087）是相对独立的、影响MM疗效的负性因素。结论间期FISH是一种检测MM患者骨髓瘤细胞突变的敏感方法,具有临床应用价值。del（13q）、t（14q）以及校正血清钙水平对判断临床疗效和预后具有指导作用。Objective To investigate the clinical significance of the deletion of the long arm of chromosome 13 [del（13q）] and translocation of immunoglobulin heavy chain gene [t（14q）] in multiple myeloma（MM） patients.Methods Myeloma cells were isolated from bone marrow by direct immunomagnetic cell sorting and interphase fluorescence in situ hybridization（FISH） was performed in 24 MM patients to detect del（13q） and t（14q）.Results The positive rates of del（13q） and t（14q） were 45.83% and 37.50%,respectively.Five patients（20.83%） had both two abnormalities and 15 patients（62.50%） had at least one abnormality.Univariate analysis showed that the positive rates of del（13q） were 35.71% and 66.67% in responders and non-responders（P=0.214） and the positive rates of t（14q） were 21.43% and 66.67% in responders and non-responders（P=0.077）.Multivariate analysis showed that del（13q）（OR=5.761,95%CI 0.500-66.391,P=0.160）,t（14q）（OR=6.576,95%CI 0.580-74.614,P=0.129）,and corrected serum calcium level（OR=8.080,95%CI 0.738-88.427,P=0.087） were relatively independent negative factors for response to therapy,with the corrected serum calcium level being the strongest reversely-correlated factor.Conclusions Interphase FISH is a sensitive method to investigate the cytogenetics of MM.Del（13q）,t（14q）,and corrected serum calcium level can be used to predict treatment response and prognosis.

关 键 词：多发性骨髓瘤 间期荧光原位杂交技术 13号染色体 免疫球蛋白重链 疗效 

分 类 号：R733.3[医药卫生—肿瘤]