浆细胞白血病的遗传学异常及预后因素分析

Prognosis and Genetic Characteristics of Patients with Plasma Cell Leukemia

目的:分析浆细胞白血病(PCL)患者的临床特征、遗传学异常、治疗效果及相关预后因素,以提高对该病的认识。方法:回顾性分析1993年1月至2019年12月于本院确诊为浆细胞白血病的30例患者的临床表现、实验室检查、治疗方案及生存资料。结果:30例PCL患者中位年龄56.5(28-80)岁,25例为原发性浆细胞白血病,5例为继发性浆细胞白血病。细胞遗传学异常以复杂核型和亚二倍体为主,20例染色体G显带分析中,11例(55%)为复杂核型,8例(40%)为亚二倍体。11例患者接受染色体FISH检查结果显示,6例(54%)携带有17p13缺失,8例(73%)携带有t(14;16)、t(8;14)、t(11;14)、17p13缺失和13q14缺失中2种以上异常。全部患者总体中位生存时间为10.5个月,诊断时ECOG评分≤2分组患者中位生存时间为21.5个月,显著长于ECOG评分>2分组的1.2个月(P=0.017);接受新药(蛋白酶体抑制剂和/或免疫调节剂)治疗组患者中位生存时间为24.9个月,显著长于传统化疗组的10.5个月(P<0.001);在接受新药治疗的患者中,2种新药联合治疗组患者中位生存时间为30.9个月,显著长于新药单药治疗组的11.5个月(P=0.021)。遗传学异常对生存时间的影响差异无统计学意义。多因素统计分析显示,诊断时ECOG评分>2分是浆细胞白血病患者的独立预后不良因素。本研究中有2例患者行异基因造血干细胞移植,均于移植后6个月内死于肺部感染相关并发症。结论:在新药治疗条件下,诊断时ECOG评分是浆细胞白血病的独立预后危险因素,患者诊断后应尽早行多种新药联合治疗以进一步改善预后。肺部感染是异基因造血干细胞移植后患者死亡的常见原因。

Objective:To evaluate the clinical characteristics,genetic abnormalities,treatment efficacy and prognostic factors in patients with plasma cell leukemia(PCL).Methods:30 patients diagnosed as PCL in our hospital from January 1993 to December 2019 were enrolled,and the clinical characteristics,laboratory findings,therapeutic regimes,and survival data of the patients were retrospectively analyzed.Results:The median age of the 30 patients was 56.5(28-80)years old,among them,25 patients were primary plasma cell leukemia,and 5 patients were secondary plasma cell leukemia.Complex karyotypes and subdiploids were most common in cytogenetic abnormalities.Among the 20 cases of chromosome G banding,11(55%)cases were complex karyotypes and 8(40%)cases were hypodiploid.Fluorescent in situ hybridization(FISH)test showed that among 11 cases,6 cases showed 17p13 deletion,8 cases showed at least two kinds of abnormalities,which including t(14;16),t(8;14),t(11;14),17p13 deletion,and 13q14 deletion.The median overall survival(OS)time was 10.5 months for all patients.The median OS time of the patients in ECOG score≤2 group was 21.5 months,which was significantly longer than those in the ECOG score>2 group(1.2 months)(P=0.017).The median OS time of the patients treated with novel agents(including proteasome inhibitor and/or immunomodulator)was 24.9 months,which was significantly longer than the patients treated with traditional chemotherapy group(10.5 months)(P<0.001).For the patients treated with novel agents,the median OS time of patients accepted two novel agents combination was 30.9 months,which was longer than those of single novel agent(11.5 months)(P=0.021).The effect of genetic abnormolity to the OS of the patients showed no statistical difference.Multivariate statistical analysis showed that ECOG score>2 was the independent prognostic factor of plasma cell leukemia patients.There were two patients underwent allogeneic hematopoietic stem cell transplantation in the study,but died due to the pulmonary infection within 6 months after transplantation.Conclusion:In the era of novel agents,ECOG score is an independent prognostic factor of plasma cell leukemia.Multiple novel agents treatment should be underwent as soon as possible to improve the prognosis of the patients.Pulmonary infection is a common factor that cause the death of the patients after allogeneic hematopoietic stem cell transplantation.