Journal Article

DKFZ-2024-02080

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The chromosomal translocation t(1;6)(p35.3;p25.2), recurrent in chronic lymphocytic leukaemia, leads to RCC1::IRF4 fusion.

Jayne, S. ; López, C. ; Put, N. ; Nagel, I. ; Lierman, E. ; Penas, E. M. M. ; Michaux, L. ; Ahearne, M. J. ; Walter, H. S. ; Bens, S. ; Drewes, C. ; Szczepanowski, M. ; Schlesner, M.DKFZ* ; Rosenstiel, P. ; Wlodarska, I. ; Siebert, R. ; Dyer, M. J. S.

2024
Wiley-Blackwell Oxford [u.a.]

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Please use a persistent id in citations: doi:10.1111/bjh.19790

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.

Keyword(s): CLL ; IRF4 ; chromosomal translocation

Note: 2024 Dec;205(6):2321-2326

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Contributing Institute(s):

1. Bioinformatik und Omics Data Analytics (B240)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2024

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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