TY  - JOUR
AU  - Jayne, Sandrine
AU  - López, Cristina
AU  - Put, Natalie
AU  - Nagel, Inga
AU  - Lierman, Els
AU  - Penas, Eva Maria Murga
AU  - Michaux, Lucienne
AU  - Ahearne, Matthew J
AU  - Walter, Harriet S
AU  - Bens, Susanne
AU  - Drewes, Cosima
AU  - Szczepanowski, Monika
AU  - Schlesner, Matthias
AU  - Rosenstiel, Philip
AU  - Wlodarska, Iwona
AU  - Siebert, Reiner
AU  - Dyer, Martin J S
TI  - The chromosomal translocation t(1;6)(p35.3;p25.2), recurrent in chronic lymphocytic leukaemia, leads to RCC1::IRF4 fusion.
JO  - British journal of haematology
VL  - 205
IS  - 6
SN  - 0007-1048
CY  - Oxford [u.a.]
PB  - Wiley-Blackwell
M1  - DKFZ-2024-02080
SP  - 2321-2326
PY  - 2024
N1  - 2024 Dec;205(6):2321-2326
AB  - 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.
KW  - CLL (Other)
KW  - IRF4 (Other)
KW  - chromosomal translocation (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:39406248
DO  - DOI:10.1111/bjh.19790
UR  - https://inrepo02.dkfz.de/record/294056
ER  -