伴t(14;19)(q32;q13)小B淋巴细胞增殖性疾病20例临床分析  

Clinical analysis of 20 cases of small B lymphocyte proliferative disease with t(14;19)(q32;q13)

作　　者：杨慧[1] 郭睿[1] 时雨 乔纯[1] 吴雨洁[1] 范磊[1] 徐卫[1] 缪扣荣[1] 李建勇[1] 仇海荣[1] Yang Hui;Guo Rui;Shi Yu;Qiao Chun;Wu Yujie;Fan Lei;Xu Wei;Miao Kourong;Li Jianyong;Qiu Hairong(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,南京210029

出　　处：《中华血液学杂志》2022年第8期674-679,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20例伴t(14;19)(q32;q13)的小B淋巴细胞增殖性疾病患者的临床特征及预后,以提高对此类少见病例的认识。方法回顾性收集并分析2013年4月至2020年12月南京医科大学第一附属医院收治的20例伴t(14;19)(q32;q13)小B淋巴细胞增殖性疾病患者的临床资料,其中10例为慢性淋巴细胞白血病(CLL),10例为其他小B细胞恶性肿瘤。结果男10例,女10例,中位年龄53.5(35~88)岁。所有患者均出现淋巴细胞绝对计数增多,19例出现淋巴结肿大,10例脾肿大。中位随访36(4~163)个月,3例死亡,11例患者至开始治疗时间(TTT)≤12个月。10例(50%)患者伴+12,2例(2/17,12%)伴13q-。t(14;19)与免疫球蛋白重链可变区(IGHV)无突变相关(17/19,89%),且存在IGHV4-39的偏向使用(7/17,41%)。应用二代测序在14例(14/17,82%)患者中检出一种或多种基因突变,共涉及25种基因异常,其中发生频率最高的是NOTCH1(35%),其次是SF3B1(24%)和KMT2D(18%)。对10例CLL患者分析发现,5例(50%)分期为RaiⅢ/Binet C期。在20例患者中,2例发生Richter转化。结论伴t(14;19)异常的小B细胞恶性肿瘤显示出独特的临床生物学特征,常伴多种不良预后因素,倾向于具有侵袭性临床病程。Objective The clinical characteristics and prognosis of 20 patients with small B-lymphocyte proliferative disease with t(14;19)(q32;q13)were analyzed to improve the understanding of such rare cases.Methods The clinical data of 20 patients with t(14;19)(q32;q13)small B lymphocyte proliferative disease treated in the First Affiliated Hospital of Nanjing Medical University from April 2013 to December 2020 were retrospectively collected and analyzed.Among them,10 cases were chronic lymphocytic leukemia(CLL)and 10 cases were other small B-cell malignancies.Results Among the 20 cases,10 were male and 10 were female,and the median age at diagnosis was 53.5(35-88)years old.All patients had absolute lymphocytosis,19 patients had lymphadenopathy,and 10 patients had splenomegaly.With a median follow-up of 36(4-163)months,three patients died,and 11 patients had a time to treatment(TTT)≤12 months.Ten patients(50%)were accompanied by+12,two patients(2/17,12%)were accompanied by 13q-.Moreover,we found that t(14;19)was associated with unmutated immunoglobulin heavy-chain variable(IGHV)somatic mutation(17/19,89%)and a biased use of IGHV4-39(7/17,41%)was observed.Next-generation sequencing detected one or more gene mutations in 14(14/17,82%)cases and a total of 25 gene mutations had been revealed,of which the most frequent were NOTCH1(35%),followed by SF3B1(24%)and KMT2D(18%).For 10 CLL patients,five(50%)were defined as RaiⅢ/Binet C.It is noteworthy that among the 20 cases,two cases actually involved Richter transformation.Conclusions Small B-cell malignant tumors with abnormal t(14;19)show unique clinical biological characteristics,often accompanied by a variety of adverse prognostic factors,and tend to have an aggressive clinical course.

关 键 词：白血病 淋巴细胞 慢性 t(14 19)(q32 q13) IGH/BCL3 临床特征 预后 

分 类 号：R733.7[医药卫生—肿瘤]