多发性骨髓瘤患者临床特征、FISH检测结果与疗效相关性的临床分析

Clinical analysis of clinical characteristics,relationship between FISH test results and efficacy in patients with multiple myeloma

目的:探讨初治多发性骨髓瘤(multiple myeloma,MM)患者的临床特征、FISH检测结果与不同治疗方案疗效的相关性。方法:回顾性分析54例初治多发性骨髓瘤患者临床特征、FISH检测结果、治疗方案及疗效,利用独立样本t检验比较分子遗传学与患者临床特征的关系,利用χ^(2)检验或Fisher确切概率法比较不同治疗方案的疗效与分子遗传学异常的关系。结果:54例MM患者总有效率为61.11%(33/54)。完成FISH检测者共41例,伴分子遗传学异常者占70.73%(29/41),其中1q21扩增、13q14缺失、p53缺失、IgH重排检出率分别为53.66%(22/41)、31.71%(13/41)、2.44%(1/41)、36.59%(15/41),2种及以上分子遗传学异常者占48.78%(20/41)。13q14缺失阳性组患者血清校正钙水平较阴性组高(P<0.05),IgH重排阳性组患者骨髓浆细胞比例高于阴性组(P<0.05)。伴有2种及以上分子遗传学异常患者总有效率及完全缓解率均低于伴有1种分子遗传学异常患者(P=0.014,P=0.005)。传统化疗组中13q14缺失、1q21扩增阳性患者总有效率均较阴性患者低(P=0.02,P=0.03),未发现IgH重排阳性患者与阴性患者间疗效差异(P>0.05);硼替佐米组中基因异常患者与正常患者间总有效率相比差异无统计学意义(P>0.05)。结论:新型治疗药物的出现使MM患者疗效得到改善,分子遗传学异常与临床特征及疗效相关,可协助判断患者预后并为治疗方案的选择提供依据,其中伴有13q14缺失阳性及1q21扩增患者治疗反应差,蛋白酶体抑制剂硼替佐米可在一定程度上改善分子遗传学阳性患者近期疗效。

Objective:To explore the clinical characteristics,relationship between FISH test results and the efficacy of different treatment options in patients with newly treated multiple myeloma(MM).Methods:The clinical characteristics,FISH test results,treatment plan and curative effect of 54 patients with newly treated MM were retrospectively analyzed.The independent sample t test was used to compare the relationship between molecular genetics and patient clinical characteristics.χ^(2) test or Fisher to confirm the probabilistic method was used to compare the relationship between the efficacy of different treatment options and molecular genetic abnormalities.Results:The total response rate of 54 MM patients was 61.11%(33/54).Among the 41 patients who completed FISH test,70.73%(29/41)were accompanied by molecular genetic abnormalities,among which the detection rate of 1q21 amplification,del(13q14),del(p53),IgH translocation was 53.66%(22/41),31.71%(13/41),2.44%(1/41),36.59%(15/41).48.78%(20/41)of those had two or more abnormal genes.The serum corrected calcium level of del(13q14)positive patients was higher than that of negative patients(P<0.05),and the proportion of bone marrow plasma cells of IgH translocation positive patients was higher than that of negative patients(P<0.05).The total effective rate and complete response rate of patients with two or more molecular genetic abnormalities were lower than those with one molecular genetic abnormality(P=0.014,P=0.005).The effective rate of the patients with del(13q14)and 1q21 amplification positive in the traditional group was lower than that of the patients with negative(P=0.02,P=0.03).No difference was found between the IgH translocation positive and the IgH translocation negative(P>0.05).There was no significant difference between the overall response rate of patients with abnormal gene and those with normal gene in bortezomib group(P>0.05).Conclusion:The emergence of new therapeutic drugs has improved the efficacy of MM patients.Molecular genetic abnormalities are related to clinical features and efficacy,which can assist in judging the prognosis of patients and provide a basis for the selection of treatment options.Among them,13q14 deletion positive and 1q21 amplification are associated with poor treatment response.The proteasome inhibitor bortezomib can improve the short-term efficacy of patients with positive molecular genetics to a certain extent.