Cui C H, Chang Y N, Zhou J, Li C W, Wang H J, Sun Q, Jia Y J, Li Q H, Wang T Y, Qiu L G, Yi S H
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
Zhonghua Xue Ye Xue Za Zhi. 2023 May 14;44(5):418-423. doi: 10.3760/cma.j.issn.0253-2727.2023.05.011.
To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . 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. 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. 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.
分析11例伴有t(14;19)(q32;q13)的慢性淋巴细胞白血病（CLL）的临床病理特征。回顾性分析了中国医学科学院血液病医院2018年1月1日至2022年7月30日染色体核型分析结果中11例伴有t(14;19)(q32;q13)的CLL患者的病例资料。11例患者中，t(14;19)(q32;q13)均涉及IGH::BCL3基因重排，且多数伴有+12或复杂核型。7例患者免疫表型评分为4 - 5分，4例为3分。我们发现伴有t(14;19)(q32;q13)的CLL具有突变模式，NOTCH1（3/7）、FBXW7（3/7）和KMT2D（2/7）存在复发性突变。极高危、高危、中危和低危组分别有1例、1例、6例和3例。2例患者死亡，8例存活，2例失访。4例患者在治疗期间出现疾病进展或复发。首次治疗的中位时间为1个月。涉及IGH::BCL3基因重排的t(14;19)(q32;q13)是CLL中一种罕见的复发性细胞遗传学异常，与预后不良相关。
