应用CDl38磁珠分选结合FISH和胞浆轻链免疫荧光结合FISH检测多发性骨髓瘤的lq21扩增

Investigation of lq21 amplification in patients with multiple myeloma using 1-FISH and clg-FISH

目的研究多发性骨髓瘤（multiplemyeloma，MM）中lq21扩增情况，对比CDl38磁珠分选（immunomagneticcellsorting，MACS）结合间期荧光原位杂交（interphasefluorescenceinsituhybridi—zation，I-FISH）技术和胞浆轻链免疫荧光结合FISH（cytoplasmiclightchainimmunofluorescence—fluorescenceinsituhybridization，cIg—FISH）技术的一致性，进一步探讨MM患者lq21扩增与疾病发展及预后之间的相关性。方法应用CDl38MACS结合I-FISH技术和elg—FISH技术检测48例MM患者lq21扩增，比较两种检测方法的一致性，分析lq21扩增与疾病临床特征及预后的相关性。结果CDl38MACS结合I-FISH技术检测48例MM患者中31例（64．6％）出现了lq21的扩增。cIg—FISH技术检测48例MM患者中26例（54．20A）出现了lq21的扩增，两种检测方法阳性率差异无统计学意义（P〉0．05）。lq2l扩增阳性组患者死亡率明显高于阴性组（P〈0．05），但两组患者性别、年龄、Durie-Salmon分期、国际分期系统分期、疾病分组的差异无统计学意义（P〉0．05）。结论lq21扩增在MM中发生率较高，是MM不良的预后因素。clg—FISH技术和CDl38MACS分选结合I-FISH技术一致性良好。

Objective To investigate the prevlance of lq21 amplification in patients with multiple myeloma （MM） and its correlation with the progression and prognosis of the disease. Method lq21 amplification was detected in 48 patients with MM using cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization analysis （cIg-FISH） and interphase fluorescence in situ hybridization （I- FISH） analysis combined with CD138 immunomagnetic cell sorting （MACS）. Results lq21 amplification （≥3 red signals） was detected in 26/48（54.2%）cases by clg-FISH and 31/48 （64.6%） cases by I-FISH combined with CD138 MACS. There was a good consistency between the two methods （P〉0. 05）. The mortality of patients with lq21 amplification was significantly higher than those without （P〈0.05）. No significant difference was detected in terms of sex, age, Durie-Salmon stage, subgroup and international staging system （ISS） stage between patients with lq21 amplification and those without （P〉 0. 05）. Conclusion The frequency of lq21 amplification in MM is high. There was also an association between the amplification and poor prognosis, clg-FISH is consistent with CD138 MACS combined with I-FISH.