不同临床期多发性骨髓瘤患者骨髓瘤克隆IgH基因重排研究

Study of IgH gene rearrangement of myeloma clone in patient with different clinical stage multiple myeloma

为探讨多发性骨髓瘤（Ｍｕｌｔｉｐｌｅｍｙｅｌｏｍａ，ＭＭ）平台期脱逸机制，以克隆性ＩｇＨ基因重排作为骨髓瘤细胞克隆的基因标志，应用聚合酶链反应（ＰＣＲ）基因扩增结合扩增产物直接测序技术分析不同临床期ＭＭ骨髓瘤细胞克隆ＩｇＨ基因重排方式。结果２３例ＭＭ中１８例检测到克隆性ＩｇＨ基因重排，不同患者的重排呈多样性，同一患者不同临床期骨髓瘤细胞具有相同的ＩｇＨ基因重排，３例患者ＰＣＲ扩增产物直接测序证实ＭＭ在病情演变过程中骨髓瘤细胞克隆ＩｇＨ基因未发生突变或碱基置换。结论：ＭＭ平台期脱逸过程中。

Objective: To investigate the pathogenesis of escape from plateau phase in multiple myeloma (MM) Methods: Clonal IgH gene as a marker of myeloma cell, polymerase chain reaction (PCR) amplication in conjuction with direct sequence was used to analysis the pattern of IgH gene rearrangement of patients with differenct clinical stage Result: 18 of 23 patients who had exhibited a plateau phase was detected a monoclonal PCR product and the product present at progression was of the same molecular weight as that at diagnosis and plateau phase, this was confirmed by sequencing the IgH gene in 3 patients, the IgH gene had no point mutation or base substitute occured during the course of the disease Conclution: Progression beyond the plateau phase in MM is not caused by clonal succession