Distinctive IgVH gene segments usage and mutation status in Chinese patients with chronic lymphocytic leukemia
Distinctive IgVH gene segments usage and mutation status in Chinese patients with chronic lymphocytic leukemia
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DOI：
10.1016/j.leukres.2008.02.005
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发表时间：
2008-10-01
影响因子：
2.7
通讯作者：
Li, Jianyong
中科院分区：
文献类型：
--
作者：
Chen, Lijuan;Zhang, Yaping;Li, Jianyong
背景和目标：慢性淋巴细胞白血病（CLL）在亚洲国家的发病率低于西方国家，CLL是最常见的白血病。它是一种临床异质性疾病，生存期从几个月到几十年不等。免疫球蛋白可变重链（IgVH）基因的突变状态显著改善了对疾病进展风险的预测。方法：采用多重RT-PCR方法检测65例CLL患者IgVH基因突变情况，并分析其与CD 38和ZAP-70表达的关系。45例（69.2%）患者有突变的IgVH，20例（30.8%）有未突变的IgVH。VH 3基因家族表达频率最高（47.7%），其次为VH 4（40%）、VH 1（6.2%）、VH 2（4.6%）和VH 7（1.5%），VH 5和VH 6基因家族均不表达。VH 1 -69和VH 3 -21在我们的队列中非常低，这两种药物在西方CLL中经常被过度使用。IgVH基因突变状态与CD 38表达显著相关。结论：中国CLL患者IgVH基因家族频率与西方CLL患者存在显著差异，提示种族和/或环境因素参与了CLL的发病。它们的表达可能是鉴定IgVH突变的简单而可靠的替代物。(c)2008爱思唯尔有限公司版权所有。
Background and objectives: The incidence of chronic lymphocytic leukemia (CLL) in Asian countries is lower than that in the Western ones, where CLL is the most common leukemia. It is a clinically heterogeneous disease, with survival ranging from a few months to decades. The mutation status of the immunoglobulin variable heavy chain (IgVH) gene has significantly improved prediction of the risk for disease progression. We investigated the frequency and mutation status of IgVH gene expression in Chinese patients with CLL.Methods: IgVH gene segments usage and mutation status were investigated by multiplex RT-PCR, and the relationship between IgVH somatic mutation status and the expression of CD38 and ZAP-70 was analyzed in 65 CLL patients.Results: Forty-five (69.2%) patients had mutated IgVH, and 20 (30.8%) had unmutated IgVH. The most frequently expressed VH gene family was found to be VH3 (47.7%) followed by VH4 (40%), VH1 (6.2%), VH2 (4.6%) and VH7 (1.5%), with no expression of VH5 or VH6 gene families. VH1-69 and VH3-21 which commonly overused in Western CLL were very low in our cohort. IgVH gene mutation status was significantly associated with the expression of CD38.Conclusions: The frequency of IgVH gene families indicates significant difference in Chinese CLL patients compared with Western patients, suggesting involvement of ethnic and/or environmental factors in CLL disease initiation. The expression of them may be simple and reliable surrogates for the identification of IgVH mutations. (c) 2008 Elsevier Ltd. All rights reserved.