T细胞大颗粒淋巴细胞白血病6例临床及实验室特征分析  

Analysis of clinical and laboratory characteristics of six cases with T⁃cell large granular lymphocytic leukemia

作　　者：陆弘逾 刘宏[2] 宋陆茜[2] LU Hongyu;LIU Hong;SONG Luxi(Department of Hematology,Yangpu Hospital,School of Medicine,Tongji University,Shanghai 200090,China;Depart-ment of Hematology,Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China)

机构地区：[1]同济大学附属杨浦医院血液科,上海200090 [2]上海交通大学医学院附属第六人民医院血液科,上海200233

出　　处：《诊断学理论与实践》2024年第6期612-618,共7页Journal of Diagnostics Concepts & Practice

基　　金：上海市杨浦区中心医院院级课题资助课题(Se1202415)。

摘　　要：目的:分析总结T细胞大颗粒淋巴细胞白血病(T-cell large granular lymphocyte leukemia,T-LGLL)患者的临床及实验室特征,探讨T-LGLL的诊断及治疗。方法:回顾性分析2019年3月至2022年12月期间,本院收治的6例连续T-LGLL患者的临床资料,分析总结其细胞形态学、骨髓细胞免疫表型检测、基因检测结果及治疗方案,并进行随访。结果:6例T-LGLL患者诊断时中位年龄为60岁(54~70岁)。6例患者就诊时均有贫血,其中3例需要输血,3例出现脾脏肿大,1例有淋巴结肿大。6例外周血大颗粒淋巴细胞(large granular lymphocyte,LGL)形态学特征典型,但均为低绝对值计数,中位计数1.0(0.4~1.4)×10^(9)/L。骨髓细胞免疫表型检测显示,所有患者LGL细胞均来源于胸腺后成熟T细胞,其中4例表达常见的CD3^(+)CD8^(+)CD57^(+)效应T细胞特征,2例表达少见的CD3^(+)CD8^(+)CD57-记忆T细胞标记。基因检测显示,6例患者T细胞受体(T cell receptor,TCR)中均能检测到不同的单克隆片段,支持T细胞的异常克隆性。二代基因测序结果显示,6例患者中4例检测到STAT3突变。6例患者均接受免疫抑制治疗,随访显示,5例患者对治疗有反应,其中5例获得了持续的血液学缓解。结论:T-LGLL单独依靠典型的细胞形态学及LGL绝对计数,不足以对T-LGLL作出早期和准确诊断,而LGL免疫表型也存在较大的差异,所以应联合形态学、免疫学、TCR克隆分析、二代基因测序分子生物学数据的多参数综合诊断。目前患者对免疫抑制治疗反应良好。Objective This paper aims to analyze and summarize the clinical and laboratory characteristics of patients with T-cell large granular lymphocytic leukemia(T-LGLL)and explore the diagnosis and treatment of T-LGLL.Methods A retrospective analysis was conducted on the clinical data of 6 T-LGLL patients treated at our hospital from March 2019 to December 2022.The cell morphology,bone marrow cell immunophenotyping,genetic testing results,and treatment plans were analyzed and summarized,with follow-up conducted.Results The median age at diagnosis of the 6 T-LGLL patients was 60(range 54-70)years.All 6 patients presented with anemia at the time of consultation,with 3 requi-ring blood transfusion,3 having splenomegaly,and 1 having lymphadenopathy.Peripheral blood LGL morphology was typi-cal in all 6 cases,but with low absolute counts.The median count was 1.0(range 0.4-1.4)×10^(9)/L.Bone marrow cell immu-nophenotyping showed that all patients’LGL cells originated from post-thymic mature T cells.4 patients expressed the common CD3^(+)CD8^(+)CD57^(+)effector T-cell markers,while 2 expressed the rare CD3^(+)CD8^(+)CD57-memory T-cell markers.Ge-netic testing revealed monoclonal fragments in the T cell receptor(TCR)of all 6 patients,supporting the clonal abnormality.The next generation gene sequencing results showed STAT3 mutations in 4 of the 6 patients.All 6 patients received immu-nosuppressive therapy,and follow-up revealed that 5 patients responded to the treatment and 5 out of 6 patients achieved continuous hematological remission.Conclusions The diagnosis of T-LGLL cannot be accurately and early made solely based on typical cell morphology and absolute LGL counts.Additionally,there are significant variations in LGL immuno-phenotypes.Therefore,an integrated multi-parameter diagnostic approach combining morphology,immunophenotyping,TCR clonal analysis,and molecular biology data from next-generation sequencing is recommended.Currently,immunosup-pressive therapy shows good treatment response.

关 键 词：白血病 大颗粒淋巴细胞 淋巴细胞 免疫表型分析 免疫抑制治疗 

分 类 号：R733.7[医药卫生—肿瘤] R445[医药卫生—临床医学]