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. 2016 Apr 12;7(15):20520-31.
doi: 10.18632/oncotarget.7819.

Immunoglobulin gene rearrangements in Chinese and Italian patients with chronic lymphocytic leukemia

Affiliations

Immunoglobulin gene rearrangements in Chinese and Italian patients with chronic lymphocytic leukemia

Marilisa Marinelli et al. Oncotarget. .

Abstract

Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in the Western world, whereas in Asia the incidence is about 10 times lower. The basis for this ethnic and geographic variation is currently unknown. The aim of this study was to characterize IGHVDJ rearrangements and stereotype of the HCDR3 region in a series of 623 Chinese CLL, in order to identify possible differences in immunoglobulin gene usage and their potential pathogenetic implications. Chinese CLL were compared to 789 Italian CLL. Chinese patients showed a higher proportion of mutated IGHV and a more frequent usage of IGHV3-7, IGHV3-74, IGHV4-39 and IGHV4-59 genes. A significantly lower usage of IGHV1-69 and IGHV1-2 was documented, with comparable IGHV3-21 frequency (3% Chinese vs 3.8% Italian CLL). The proportion of known stereotyped receptors was significantly lower in Chinese (19.7%) than in Italian CLL (25.8%), despite a significantly higher frequency of subset #8 (p= 0.0001). Moreover, new paired clusters were identified among Chinese cases. Overall, these data support a potential different antigenic exposure between Eastern and Western CLL.

Keywords: Chinese CLL; IGHV; Italian CLL; chronic lymphocytic leukemia; stereotyped receptors.

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Conflict of interest statement

CONFLICTS OF INTEREST

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Comparison between Chinese and Italian CLL
A. Frequency of the IGHV subgroups. B. Frequency of the IGHV genes. * marks the significant differences (p values in the text). Data are represented as percentage.
Figure 2
Figure 2. Mutational Patterns of IGHV genes
A. Chinese CLL. B. Italian CLL. Data are represented as percentage.
Figure 3
Figure 3. Stereotyped BCRs representation
A. Chinese and Italian stereotyped and non-stereotyped BCRs. B. Frequency of Major subsets in Chinese and Italian series. * marks the significant differences (p values in the text). Data are represented as percentage.
Figure 4
Figure 4. Frequency of stereotyped and heterogeneous BCRs for selected IGHV genes
A. Chinese CLL. B. Italian CLL. Data are represented as percentage.

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