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Updated: Jul 6, 2026
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Distinctive IgVH gene segments usage and mutation status in Chinese patients with chronic lymphocytic leukemia
Lijuan Chen1, Yaping Zhang, Wenjuan Zheng
1Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
Insights
Chinese chronic lymphocytic leukemia (CLL) patients show distinct immunoglobulin heavy chain (IgVH) gene family usage compared to Western populations. This suggests ethnic or environmental factors influence CLL development and IgVH mutation status may predict disease progression.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Chronic lymphocytic leukemia (CLL) is the most common leukemia in Western countries but less frequent in Asia.
- CLL is clinically heterogeneous, with variable patient survival.
- Immunoglobulin heavy chain (IgVH) gene mutation status is a key prognostic factor in CLL.
Purpose of the Study:
- To investigate the frequency and mutation status of IgVH gene expression in Chinese CLL patients.
- To compare IgVH gene usage in Chinese CLL patients with Western cohorts.
- To analyze the association between IgVH mutation status and CD38/ZAP-70 expression.
Main Methods:
- Multiplex RT-PCR was used to analyze IgVH gene segments usage and mutation status.
- Sixty-five Chinese CLL patients were included in the study.
- Correlation between IgVH somatic mutation status and CD38/ZAP-70 expression was assessed.
Main Results:
- 69.2% of Chinese CLL patients had mutated IgVH; 30.8% had unmutated IgVH.
- VH3 and VH4 were the most frequent IgVH gene families.
- Overuse of VH1-69 and VH3-21, common in Western CLL, was low in this cohort.
- IgVH gene mutation status significantly correlated with CD38 expression.
Conclusions:
- Significant differences in IgVH gene family frequency exist between Chinese and Western CLL patients.
- Ethnic and/or environmental factors may play a role in CLL initiation.
- CD38 expression can serve as a reliable surrogate for identifying IgVH mutations in CLL.
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.
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