The chromosomal translocation <i>t</i> (1;6)(p35.3;p25.2), recurrent in chronic lymphocytic leukaemia, leads to <i> <scp>RCC1</scp> :: <scp>IRF4</scp> </i> fusion

Sandrine Jayne(University of Leicester), Cristina López(Universität Ulm), Natalie Put(Ziekenhuis Oost-Limburg), Inga Nagel(Christian-Albrechts-Universität zu Kiel), Els Lierman, Eva Maria Murga Penas(Christian-Albrechts-Universität zu Kiel), Lucienne Michaux, Matthew J. Ahearne(University of Leicester), Harriet S. Walter(University of Leicester), Susanne Bens(Universität Ulm), Cosima Drewes(Universität Ulm), Monika Szczepanowski(Christian-Albrechts-Universität zu Kiel), Matthias Schlesner(University of Augsburg), Philip Rosenstiel(Christian-Albrechts-Universität zu Kiel), Iwona Włodarska(Centro de Investigación Biomédica en Red de Cáncer), Reiner Siebert(Universität Ulm), Martin J.S. Dyer(University of Leicester)
British Journal of Haematology
October 15, 2024
10.1111/bjh.19790
Cited by 2Open Access
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Abstract

The chromosomal translocation t(1;6)(p35.3;p25.2) is a rare but recurrent aberration in chronic lymphocytic leukaemia (CLL). We report molecular characterization of 10 cases and show that this translocation juxtaposes interferon regulatory factor 4 (IRF4) on 6p25 with regulator of chromosome condensation 1 (RCC1) on 1p35. The breakpoints fell within the 5' untranslated regions of both genes, resulting in RCC1::IRF4 fusion transcripts without alterations of the protein-coding sequences. Levels of expression of both RCC1 and IRF4 proteins were not obviously deregulated. The cases showed other mutations typical of CLL and we confirm previously reported skewing towards the IGHV-unmutated subtype. RCC1::IRF4 fusion characterizes a rare subset of CLL.

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