免疫分型联合核型检查对初诊慢性淋巴细胞白血病的诊断价值

 【摘要】　目的　探讨慢性淋巴细胞白血病（CLL）的免疫表型及核型特征，并分析其在初诊CLL的鉴别诊断价值。方法　回顾性分析70例初诊CLL流式细胞术（FCM）免疫表型及其染色体核型特点，结合临床和实验室结果再分析误诊病例。结果　70例初诊CLL免疫表型均表达CD19，其他成熟B细胞相关抗原CD20、CD22阳性率依次为88.5 %（54／61）及 51.9 %（27／52），T系相关抗原CD5的阳性率77.1 %（54／70），CD5 CD19非双阳性表达[CD+5 CD+19（-）]CLL共16例（22.9 %）。34例行CD23检测，阳性率为67.6 %（23／34）。 59例常规染色体核型分析（CC）显示异常核型13例（22.0 %），最常见为-Y、+12、-20、17号染色体异常，复杂核型5例（8.5 %），无分裂象2例，正常39例；10例行CLL组合探针荧光原位杂交（FISH）检查，异常检出率为60 %，以GIP D13S25异常检出率最高，为66.6 %。CD+5 CD+19（-）CLL与CD5 CD19双阳性表达[CD+5 CD+19（+）]CLL核型异常发生率差异无统计学意义（P＝0.537）。对部分临床过程不符合CLL惰性病程再分析，70例初诊CLL中6例误诊，其中CD+5 CD+19（+）误诊2例，经荧光原位杂交技术（FISH）t（11；14）及CyclinD1确诊为套细胞淋巴瘤（MCL）；CD+5 CD+19（-）CLL误诊4例，分别为脾边缘区淋巴瘤（SMZL）1例、B淋巴系统增殖性疾病（B-LPD）1例和毛细胞白血病（HCL）2例，误诊率为25.0 %，显著高于CD+5 CD+19（+）CLL（P＝0.030），而CD23的表达显著低于CD+5 CD+19（+）CLL（P＝0.016）。结论　CD+5 CD+19（-）CLL误诊率高；CLL的典型免疫表型特征为CD5、CD19、CD23的共表达，联合CD20、CD22表达强弱及核型分析有助于CLL与其他B-LPD鉴别； CC联合FISH检查可提高异常染色体的识别能力。免疫表型联合染色体分析能提高误诊CLL的检出率。

Diagnosis value of immunophenotype and karyotypes in the de novo chronic lymphocytic leukemia

Objective To investigate the diagnosis value of immunophenotype and karyotypes in newly diagnosed chronic lymphocytic leukemia （CLL）. Methods To retrospect the flow cytometry （FCM） immunophenotype and kal＂yotypes characteristics in newly diagnosed 70 CLL cases. Results In all cases, the positive rates of CD19, CD20, CD5, CD23, CD22 were 100 %, 88.5 % （54/61）, 77.1% （54/70）, 67.6 % （23/34） and 51.9 % （27/52）, respectively. And 6 were misdiagnosed, 2 was CD5 CD19（＋）, but CD20, CD22 were strongly positive, final diagnosed as mantle cell lymphoma （MCL） by FISH t（11;14） examination and CyclinD1; CD; CD19（-） CLL were 16 cases （22.9 %）, but 4 were misdiagnosed, the misdiagnosis rate was 25 %, significantly higher than that of CD5 CD19（-） CLL （P = 0.030）. 59 cases were examined by conventional eytogenetic （CC）, and 13 cases were with abnormal karyotypes, positive rate was 22.0 %, with complex karyotypes in 5 cases （8.5 %）; 10 cases combined with FISH abnormalities karyotype examination rate was 60 %. Conclusion Typical CLL immunophenotypic characteristics were CDs, CDI9, CD23 co-expression, and CD5 CLL with higher misdiagnosis rate, combined with CD20, CD22 expression and karyotype analysis helps to CLL and other B lymphoid proliferative diseases （B-LPD） identification. Conventional cytogenetic detection combined with FISH scan can improve the recognition ability of abnormal chromosome.