胞浆轻链免疫荧光结合荧光原位杂交检测初诊多发性骨髓瘤del(17p13)及其临床意义

Detection of del(17p13)among newly diagnosed multiple myeloma cases using cytoplasmic light chain immunofluorescence combined with FISH and its clinical significance

目的应用胞浆轻链免疫荧光结合荧光原位杂交技术(cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization,cIg-FISH)检测多发性骨髓瘤的染色体异常情况,并分析del(17p13)与新诊断的多发性骨髓瘤(newly diagnosed multiple myeloma,NDMM)患者的临床资料的关系、治疗反应及其对预后的影响。方法收集2010年12月至2018年6月收治的198例NDMM患者的临床资料,应用cIg-FISH技术,采用特异性探针(TP53)对其骨髓标本进行检测,分析其染色体异常情况,并与患者的临床指标进行相关性分析。结果在198例NDMM患者中,共发现19例(9.6%)存在del(17p13),伴有del(17p13)患者的总生存期(overall survival,OS)和无进展生存期(progression-free survival,PFS)较不伴有del(17p13)患者差异有统计学意义(P<0.01)。Del(17p13)的多发性骨髓瘤患者采用硼替佐米为主方案与非硼替佐米为主方案相比,其OS和PFS差异均无统计学意义(OS:P=0.873;PFS:P=0.610)。结论cIg-FISH技术是一种简单方便的检测多发性骨髓瘤核型异常的技术。del(17p13)是多发性骨髓瘤患者不良的预后因素,硼替佐米不能改善伴有del(17p13)的生存劣势。

Objective To detect chromosomal aberrations by using cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization(cIg-FISH),and to explore the correlation of del(17p13)with clinical characteristics,drug response and prognosis among patients with newly diagnosed multiple myeloma(NDMM).Methods Clinical data of 198 cases of NDMM was collected.cIg-FISH and a specific probe(TP53)were used to detect karyotypic abnormalities in bone marrow samples derived from the patients.Correlation between karyotypic abnormalities and clinical data was analyzed.Results Nineteen of the 198 patients(9.6%)were found to have a karyotype involving del(17p13).The overall survival(OS)and progression-free survival(PFS)for patients with or without del(17p13)was significantly different(P<0.01).No significant difference was found in OS and PFS between patients carrying a del(17p13)on bortezomib and non-bortezomib regimen(OS:P=0.873;PFS:P=0.610).Conclusion cIg-FISH is a simple and convenient method for the detection of karyotypic anomalies in multiple myeloma.Del(17p13)is an indicator for poor prognosis for multiple myeloma patients.Bortezomib cannot improve the survival disadvantage of del(17p13).