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慢性淋巴细胞白血病合并t(14;19)(q32;q13)的11例患者的临床特征。

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

发表日期:2023 May 14
作者: C H Cui, Y N Chang, J Zhou, C W Li, H J Wang, Q Sun, Y J Jia, Q H Li, T Y Wang, L G Qiu, S H Yi
来源: Experimental Hematology & Oncology

摘要:

目的:分析11例(慢性淋巴细胞白血病(CLL)合并t(14;19)(q32;q13))的临床病理特征。方法:回顾性分析中国医学科学院血液病医院2018年1月1日至2022年7月30日的11例CLL合并t(14; 19)(q32;q13)的染色体核型分析结果,包括患者基本资料。结果:在所有11例患者中,t(14; 19)(q32;q13)涉及IGH::BCL3基因重排,并且大部分患者伴有+12染色体异常或复杂核型。在7例患者中发现免疫表型得分为4-5,而4例患者中为3。我们证明,CLL合并t(14;19)(q32;q13)在重复突变中具有NOTCH1(3/7)、FBXW7(3/7)和KMT2D(2/7)的突变模式。非常高风险组、高风险组、中风险组和低风险组分别有1例、1例、6例和3例。两例患者死亡,8例患者存活,2例患者失去随访。4例患者在治疗过程中出现疾病进展或复发。第一次治疗的中位时间为1个月。结论:涉及IGH::BCL3基因重排的t(14;19)(q32;q13)是CLL中罕见的复发性细胞遗传异常,与预后较差有关。
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.