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为了探讨Richter综合征(RS)临床及生物学特征及其预后因素,回顾性分析8例RS患者。利用血清学检测、多参数流式细胞术(FCM)、常规细胞遗传学(CC)、间期荧光原位杂交(FISH)技术、PCR联合DNA序列测定,分别检测患者血清乳酸脱氢酶(LDH)、β2-微球蛋白(β2-MG)、胸苷激酶1(TK1)、血清铁蛋白(SF)和糖链抗原-125(CA-125),CD38和ZAP-70,染色体核型,ATM和p53基因缺失、+12异常,以及免疫球蛋白重链可变区(IgVH)突变。结果显示:8例RS患者中7例转化为弥漫大B细胞淋巴瘤(DLBCL),1例转化为霍奇金淋巴瘤(HL)。7例LDH高于正常值,4例β2-MG高于正常值,7例SF高于正常值,4例CA-125高于正常值,1例TK1高于正常值。4例患者ZAP-70阳性,7例CD38阳性,5例IgVH无突变,4例有染色体复杂核型,1例有+12,1例有p53缺失。按就诊时BinetA+B期与BinetC期将患者分为两组,BinetA+B组从诊断至转化的平均时间为98.5个月,BinetC组为38.3个月,两组间有显著性差异(p=0.021)。平均总生存期(OS)在BinetA+B组及BinetC组之间分别是123.8个月及49.8个月,两组间有显著性差异(p=0.049),转化后平均生存时间分别是34.5个月及10.3个月。结论:RS患者血清LDH、β2-MG和SF水平高,ZAP-70和CD38高表达、IgVH无突变发生率高,临床分期可能是RS转化的风险及预后因素。
To investigate the clinical and biological characteristics of Richter’s syndrome (RS) and its prognostic factors, 8 patients with RS were retrospectively analyzed. Serum lactate dehydrogenase (LDH) was detected by serological test, multi-parameter flow cytometry (FCM), routine cytogenetics (CC), interphase fluorescence in situ hybridization (FISH) ), Β2-microglobulin (TK), serum ferritin (SF) and carbohydrate antigen -125 (CA-125), CD38 and ZAP-70, And p53 gene deletion, +12 abnormalities, and immunoglobulin heavy chain variable region (IgVH) mutations. Results: 7 of 8 patients with RS were converted to diffuse large B-cell lymphoma (DLBCL) and 1 to Hodgkin lymphoma (HL). 7 cases of LDH were higher than normal, 4 cases of β2-MG was higher than normal, 7 cases of SF were higher than normal, 4 cases of CA-125 was higher than normal and 1 case of TK1 was higher than normal. Four patients were positive for ZAP-70, seven were CD38 positive, five had no mutation in IgVH, four had complex chromosomal karyotypes, one had +12 and one had p53 deletion. The patients were divided into two groups according to BinetA + B and BinetC at diagnosis. The average time from diagnosis to conversion in BinetA + B group was 98.5 months and in BinetC group was 38.3 months, there was significant difference between the two groups (p = 0.021). Mean overall survival (OS) was 123.8 months and 49.8 months in the BinetA + B and BinetC groups, respectively, with a significant difference between the two groups (p = 0.049) and an average survival time of 34.5 months And 10.3 months. Conclusion: Serum levels of LDH, β2-MG and SF in RS patients are high, ZAP-70 and CD38 are highly expressed, and the incidence of IgVH mutation is high. The clinical stage may be the risk and prognostic factor of RS.