11例伴t(14;19)(q32;q13)的慢性淋巴细胞白血病患者临床特征

Clinical characteristics of 11 patients with chronic lymphocytic leukemia with t(14;19)(q32;q13)

目的分析伴t(14;19)(q32;q13)的慢性淋巴细胞白血病(CLL)患者的临床特征。方法回顾性分析2018年1月1日至2022年7月30日中国医学科学院血液病医院染色体核型分析结果中伴有t(14;19)(q32;q13)的11例CLL患者的病例资料。结果11例患者中,t(14;19)(q32;q13)均导致IGH::BCL3基因重排,多伴有+12或复杂核型,免疫表型积分4~5分者7例,3分者4例。突变频率较高的基因为NOTCH1(3/7)、FBXW7(3/7)和KMT2D(2/7)。极高危组1例,高危组1例,中危组6例,低危组3例。2例患者死亡,7例患者存活,2例患者失访,4例患者治疗期间出现疾病进展或复发。中位首次治疗时间为1个月。结论t(14;19)(q32;q13)可涉及IGH::BCL3基因重排,是CLL中少见的重现性染色体异常,可能提示预后不良。

Objective To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia(CLL)with t(14;19)(q32;q13).Methods The case data of 11 patients with CLL with t(14;19)(q32;q13)in the chromosome karyotype analysis results of the Blood Diseases Hospital,Chinese Academy of Medical Sciences from January 1,2018,to July 30,2022,were retrospectively analyzed.Results In all 11 patients,t(14;19)(q32;q13)involved IGH::BCL3 gene rearrangement,and most of them were accompanied by+12 or complex karyotype.An immunophenotypic score of 4–5 was found in 7 patients and 3 in 4 cases.We demonstrated that CLLs with t(14;19)(q32;q13)had a mutational pattern with recurrent mutations in NOTCH1(3/7),FBXW7(3/7),and KMT2D(2/7).The very-high-risk,high-risk,intermediate-risk,and low-risk groups consisted of 1,1,6,and 3 cases,respectively.Two patients died,8 survived,and 2 were lost in follow-up.Four patients had disease progression or relapse during treatment.The median time to the first therapy was 1 month.Conclusion t(14;19)(q32;q13),involving IGH::BCL3 gene rearrangement,is a rare recurrent cytogenetic abnormality in CLL,which is associated with a poor prognosis.