中文摘要：

目的探讨典型免疫表型慢性淋巴细胞白血病（CLL）与不典型CLL在临床特征、Binet分期、淋巴细胞绝对计数（ALC）、ZAP-70蛋白表达、CD38表达、IgVH突变和遗传学特性等预后因素上的差异。方法参照英国CLL临床指南诊断评分系统，77例患者中积分5分的有61例，为典型CLL，积分为4分或3分的有16例，为不典型CLL。采用多参数流式细胞术（FCM）对77例CLL患者的外周血或骨髓标本进行免疫表型检测，包括CD5、CD19、CD23、FMC7、sIg（κ和λ）、CD20、CD79b，并检测预后相关因素ZAP-70和CD38的表达水平；采用多重RT—PCR检测IgVH基因突变状态；组合探针荧光原位杂交（FISH）技术检测分子遗传学异常。结果典型CLL与不典型CLL两组患者在性别、年龄、IgVH基因突变率、ZAP70表达上的差异均无统计学意义（P值分别为0．398、0．189、0．268和0．131）；不典型CLL组中ALC≥50×10^9／L、Binet B＋C期和CD38阳性率≥30％所占比例（分别为43．8％、87．5％、43．8％）明显高于典型CLL组（分别为16．4％、36．1％、16．4％）（P=0．026、P〈0．01和P=0．026）；典型与不典型CLL组的分子遗传学结果也有显著差异，典型CLL组中单独伴有del（13q14）异常的比例（26．8％）大于不典型组（7．6％），而del（17p13）或del（11q22）异常的比例（12．2％）小于不典型组（46．2％）（P=0．022）。结论典型免疫表型CLL与不典型CLL在Binet分期、ALC、CD38表达和遗传学特性上有显著差异。

英文摘要：

Objective To analyze the prognostic factors for chronic lymphocytic leukemia （CLL） with typical and atypical immunophenotype. The parameters analyzed included sex, age, Binet stages, absolute lymphocyte count （ ALC）, immunoglobulin heavy-chain variable region （IgVH） gene mutation status, ZAP-70 protein, CD38 expression and cytogenetic aberrations. Methods According to the clinical guideline and scoring system for CLL in Britain, among 77 patients, 61 patients with score 5 called typical immunophenotype CLL, 16 with score 4 or 3 were atypical immunophenotype CLL. Multiparameter flow cytometry was employed for immunophenotypic analysis in 77 CLL patients for CDS, CD19, CD23, FMC7, sIg, CD20, CD79b expression and ZAP-70 protein and CD38. IgVH mutation status was detected by multiplex RT-PCR and sequencing of the purified PCR amplification products. Fluorescence in situ hybridization （ FISH ） and a panel of probes were used to detect cytogenetic aberrations. Results There was no significant difference between the two groups in sex, age, ZAP-70 and IgVH mutation status （ P = 0. 398, P = 0. 189, P = 0.268 and P =0. 131, respectively）. The incidence of ALC≥50×10^9/L, Binet B ＋ C, CD38 ≥30% in atypical CLL patients（43.8%, 87.5% and 43.8%, respectively） were higher than that in typical group （ 16. 4%, 36.1% and 16.4%, respectively） （P =0.026, P 〈0.01 and P =0. 026, respectively）. The proportion of typical patients （26.8%） with a 13q14 deletion as sole abnormality was higher than that of atypical patients （7.6%）, and that with deletion of 11q22 or 17p13 was lower than that of atypical patients （12.2% vs 46.2% ）（P = 0. 022）. Conclusion There were obvious differences between the typical immunophenotype CLL and atypical CLL in ALC, Binet stages, CD38 expression level and cytogenetic aberrations.