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Characterisation of BCL2-JH rearrangements in follicular lymphoma: PCR detection of 3′ BCL2 breakpoints and evidence of a new cluster

Leukemia volume 14, pages 1563–1569 (2000)Cite this article

Abstract

Follicular lymphomas (FL) are closely associated with a t(14;18)(q32;q21) translocation, leading to a bcl2 protein overproduction. This translocation probably constitutes a very early step in the development of the disease. Besides the cytogenetic assay, t(14;18) detection can be achieved using either Southern blot or polymerase chain reaction (PCR). Since 1990, several publications have reported discrepancies between the results of cytogenetic and molecular analysis of t(14;18). Using methods able to explore long DNA fragments, several authors reported breakpoints located outside the usual breakpoint regions. However, these techniques cannot be easily used in routine. The aim of this study was to develop a simple PCR assay to amplify rearrangements usually not detected in FL. We selected a group of 83 patients with a t(14;18) on cytogenetic analysis: using usual probes and primers, 54/83 (65.1%) showed a MBR rearrangement, 7/83 (8.4%) were mcr positive and 22/83 (26.5%) remained negative. Among these 22 rearrangements, nine could be detected using this new PCR assay. Four breakpoints were located in a 20 bp area suggesting a recurrent breakpoint cluster close to an Alu repetitive sequence. Finally, remaining negative cases (13/83, 15.6%) suggest that other breakpoints are located between the MBR and mcr regions. Leukemia (2000) 14, 1563–1569.

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Acknowledgements

This work was supported by the Comité Départemental de Seine-Maritime de la Ligue Nationale Française Contre le Cancer.

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Authors and Affiliations

  1. INSERM, EPI 9906, IFRMP No. 23, Génétique et Hématologie Moléculaire, Centre Henri Becquerel, Rouen, France

    G Buchonnet, F Parmentier & C Bastard

  2. Département d’Hématologie, Centre Henri Becquerel, Rouen, France

    P Lenain, S Lepretre, A Stamatoullas, F Jardin & H Tilly

  3. INSERM Unite 519, Centre Hospitalier et Universitaire, Rouen, France

    P Ruminy

  4. Laboratoire d’Anatomie Pathologique, Centre Henri Becquerel, Rouen, France

    C Duval

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  1. G Buchonnet
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Buchonnet, G., Lenain, P., Ruminy, P. et al. Characterisation of BCL2-JH rearrangements in follicular lymphoma: PCR detection of 3′ BCL2 breakpoints and evidence of a new cluster. Leukemia 14, 1563–1569 (2000). https://doi.org/10.1038/sj.leu.2401889

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