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Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome

Leukemia volume 18, pages 326–330 (2004)Cite this article

Abstract

Patients with chronic lymphocytic leukemia (CLL) may develop diffuse large B-cell lymphoma (DLBL), also known as Richter's syndrome. Mutational status of immunoglobulin (Ig) heavy-chain variable region (VH) genes have prognostic impact in CLL. Patients with mutated VH genes have a stable disease, whereas patients with unmutated VH gene have more aggressive disease. The mutational status of CLLs that transform to DLBL is unknown. To reveal whether Richter's syndrome occurs in CLLs with mutated or unmutated VH genes, we have performed mutational analysis on serial specimens from eight patients. CLL and DLBL tumorclones were identical in five cases and they were different in three cases. Six CLLs expressed unmutated and two cases expressed mutated VH genes. In five of the six unmutated CLLs, the DLBL clones evolved from CLL tumorclones and the VH genes expressed by DLBLs were also unmutated. In one unmutated and two mutated CLLs, the DLBLs expressed mutated VH genes, but in these three cases the DLBL tumorclones developed as independent secondary neoplasm. These results suggest that Richter's syndrome may develop in both mutated or unmutated CLLs, but clonal transformation of CLL to DLBL occur only in the unmutated subgroup of CLL.

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Acknowledgements

This work was supported by grants from the Hungarian National Science Foundation OTKA T032572, T034410 and T034892m and from the Hungarian Ministry of Health ETT 144/2003, 143/2003 and 147/2003.

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Authors and Affiliations

  1. 1st Department of Pathology and Experimental Cancer Research, Faculty of Medicine, Semmelweis University, Budapest, Hungary

    B Timár, Z Fülöp, B Csernus, C Angster, Á Bognár, Á Szepesi, L Kopper & A Matolcsy

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  1. B Timár
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  2. Z Fülöp
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  3. B Csernus
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  8. A Matolcsy
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Correspondence to A Matolcsy.

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Timár, B., Fülöp, Z., Csernus, B. et al. Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome. Leukemia 18, 326–330 (2004). https://doi.org/10.1038/sj.leu.2403249

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