三例伴有t（18;22）（q21;q11）慢性淋巴细胞白血病的细胞及分子遗传学研究*

doi:10.3969/j.issn.1671-2587.2021.04.014

临床输血与检验 ›› 2021, Vol. 23 ›› Issue (4): 473-478.DOI: 10.3969/j.issn.1671-2587.2021.04.014

三例伴有t（18;22）（q21;q11）慢性淋巴细胞白血病的细胞及分子遗传学研究^*

向鑫, 刘恒芳, 曾招, 白淑潇, 岑建农, 金松, 沈宏杰, 陈苏宁, 潘金兰

215006 苏州大学附属第一医院

收稿日期:2021-04-01 出版日期:2021-08-20 发布日期:2021-08-18
通讯作者: 潘金兰,女,主任技师,博士,主要从事血液病学研究,（E-mail）jinlanpan@126.com。
作者简介:向鑫（1995-）,女,湖南双峰县人,硕士,主要从事血液病学研究,（E-mail）xin991022@163.com。
基金资助:
*本课题受国家自然科学基金项目（No. 81600116）资助

Cytogenetic and Molecular Genetic Studies on Chronic Lymphocytic Leukemia with t（18;22）（q21;q11）： Three Cases

XIANG Xin, LIU Heng-fang, ZENG Zhao, et al

Jiangsu Institute of Hematology,Suzhou 215006

Received:2021-04-01 Online:2021-08-20 Published:2021-08-18

摘要/Abstract

摘要： 目的分析伴有t（18;22）（q21;q11）慢性淋巴细胞白血病（chronic lymphocytic leukemia,CLL）的临床及实验室特征。方法应用DSP30+IL-2刺激剂对慢淋细胞进行72 h刺激培养,采用常规方法制备染色体并利用R显带技术进行核型分析,进一步通过荧光原位杂交技术（fluorescence in situ hybridization,FISH）验证3例患者BCL-2基因重排,同时对例1患者进行全基因组测序分析,随访患者化疗疗效及生存情况。结果 3例患者均伴有t（18;22）（q21;q11）异常核型,FISH检测均为BCL-2重排,全基因组测序证实例1患者涉及BCL-2与IGL易位。结论 t（18;22）具有与t（14;18）不同的分子结构,且该异常核型发生率低,多见于CLL;伴有该异常核型的CLL可能具有难治性和易复发等特点。

关键词: t（18;22）, （q21;q11）, 慢性淋巴细胞白血病, BCL-2, 免疫球蛋白轻链

Abstract: Objective To analyze clinical characteristics and laboratory features of chronic lymphocytic leukemia （CLL） with t（18;22）（q21;q11）. Methods CLL cells with DSP30+IL2 stimulant were cultured for 72 hours. Chromosome preparation and karyotype analysis were performed by routine method and R-banding technique. Furthermore, BCL-2 rearrangement in 3 cases was confirmed by fluorescence in situ hybridization（FISH）. Meanwhile,we presented a whole genome sequencing（WGS） of case No.1. Patients were followed-up for chemotherapy efficacy and survival. Results Abnormal karyotype described as t（18;22）（q21;q11） were showed in all 3 patients. FISH analysis revealed BCL2 rearrangement. WGS confirmed a BCL-2 and IGL translocations in case No.1. Conclusion t（18;22） has different molecular structure from t（14;18）and the incidence of abnormality is low. It is more common in CLL. CLL with this abnormality may be refractory and easy to relapse.

Key words: t（18;22）, （q21;q11）, CLL, BCL-2, IGL

中图分类号:

R733.72

向鑫, 刘恒芳, 曾招, 白淑潇, 岑建农, 金松, 沈宏杰, 陈苏宁, 潘金兰. 三例伴有t（18;22）（q21;q11）慢性淋巴细胞白血病的细胞及分子遗传学研究^*[J]. 临床输血与检验, 2021, 23(4): 473-478.

XIANG Xin, LIU Heng-fang, ZENG Zhao, et al. Cytogenetic and Molecular Genetic Studies on Chronic Lymphocytic Leukemia with t（18;22）（q21;q11）： Three Cases[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2021, 23(4): 473-478.

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三例伴有t（18;22）（q21;q11）慢性淋巴细胞白血病的细胞及分子遗传学研究^*

Cytogenetic and Molecular Genetic Studies on Chronic Lymphocytic Leukemia with t（18;22）（q21;q11）： Three Cases

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