伴t(14;18)(q32;q21)的慢性淋巴细胞白血病八例报告并文献复习  

Chronic lymphocytic leukemia with t(14;18)(q32;q21):report of eight cases and a literature review

作　　者：张菁[1] 仇海荣[1] 杨慧[1] 郭睿[1] 缪祎 朱华渊[1] 王莉[1] 范磊[1] 徐卫[1] 李建勇[1] Li Jianyong;Zhang Jing;Qiu Hairong;Yang Hui;Guo Rui;Miao Yi;Zhu Huayuan;Wang Li;Fan Lei;Xu Wei(Department of Hematology,Jiangsu Province Hospital,The First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,210029

出　　处：《中华血液学杂志》2021年第7期577-582,共6页Chinese Journal of Hematology

基　　金：国家自然科学基金国际(地区)合作与交流项目(81720108002);国家重大科技专项(2018ZX09734-007)。

摘　　要：目的分析伴t(14;18)(q32;q21)的慢性淋巴细胞白血病(CLL)患者的临床特征及预后,并进行相关文献复习。方法收集并分析2009年11月至2019年11月于江苏省人民医院就诊的8例伴t(14;18)(q32;q21)的CLL患者的临床资料。结果8例患者中7例男性,1例女性,诊断时中位年龄70岁,3例免疫表型积分5分,4例积分4分,1例积分3分。所有患者的骨髓组织病理学均为典型CLL表现。染色体核型示所有患者的t(14;18)(q32;q21)均为干系,3例仅携带t(14;18)(q32;q21)异常,4例为t(14;18)(q32;q21)伴+12,1例为t(14;18)(q32;q21)伴13q-。通过FISH在另外3例患者中发现了13q-。6例检测了免疫球蛋白重链可变区(IGHV)突变状态且均为有突变,未见IGHV3-21片段使用。进行相关检测的患者中,仅1例携带TP53突变,其余患者未见TP53、SF3B1、NOTCH1、MYD88突变。中位随访30.9个月时,1例死亡,7例存活,其中3例尚未达到治疗指征,4例接受化疗或免疫治疗的患者病情均稳定。结论t(14;18)(q32;q21)在CLL中少见,往往与+12、有突变的IGHV伴随出现。伴t(14;18)(q32;q21)的CLL可能预后良好。Objective The study aimed to analyze the clinical features and prognosis of chronic lymphocytic leukemia(CLL)with t(14;18)(q32;q21)and conduct a literature review.Methods The clinical data of 8 patients with CLL carrying t(14;18)(q32;q21)seen in Jiangsu Province Hospital from November 2009 to November 2019 were collected and analyzed.Results Among the 8 cases,7 were male and 1 was female.The median age at diagnosis was 70 years old.The immunophenotype score was 5 in 3 patients.4 patients were scored 4 and the remaining one scored 3.The bone marrow histopathology showed the typical manifestation of CLL.Karyotype analysis showed that all the cases carried t(14;18)(q32;q21)in the stemline.The t(14;18)(q32;q21)showed as the sole abnormality in 3 cases,with+12 in 4,and with 13q-in 1 case.13q-was found in another 3 patients by FISH.Immunoglobulin heavy chain gene(IGHV)mutation status was detected in 6 cases and all of them were mutated.None of them used IGHV3-21.Only 1 case harbored TP53 mutation and no TP53,SF3B1,NOTCH1,or MYD88 mutations were found in the remaining cases who underwent the relevant tests.At a median follow-up of 30.9 months,1 case died.The remaining 7 cases survived and 3 of them have not reached the treatment indication.4 patients who received chemotherapy or immunotherapy were stable.Conclusions The t(14;18)(q32;q21)is rare in CLL and often accompanied by+12 and mutated IGHV.CLL with t(14;18)(q32;q21)tends to have a good prognosis.

关 键 词：白血病 淋巴细胞 慢性 t(14 18)(q32 q21) 临床特征 预后 

分 类 号：R733.72[医药卫生—肿瘤]