Jayne Sandrine, López Cristina, Put Natalie, Nagel Inga, Lierman Els, Penas Eva Maria Murga, Michaux Lucienne, Ahearne Matthew J, Walter Harriet S, Bens Susanne, Drewes Cosima, Szczepanowski Monika, Schlesner Matthias, Rosenstiel Philip, Wlodarska Iwona, Siebert Reiner, Dyer Martin J S
The Ernest and Helen Scott Haematological Research Institute, Leicester Cancer Research Centre, University of Leicester, Leicester, UK.
Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein-Campus Kiel, Kiel, Germany.
Br J Haematol. 2024 Dec;205(6):2321-2326. doi: 10.1111/bjh.19790. Epub 2024 Oct 15.
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.
染色体易位t(1;6)(p35.3;p25.2)在慢性淋巴细胞白血病（CLL）中虽罕见但反复出现。我们报告了10例病例的分子特征，表明这种易位使6p25上的干扰素调节因子4（IRF4）与1p35上的染色体凝聚调节因子1（RCC1）并列。断点位于两个基因的5'非翻译区内，导致RCC1::IRF4融合转录本，而蛋白质编码序列未改变。RCC1和IRF4蛋白的表达水平没有明显失调。这些病例显示出CLL典型的其他突变，并且我们证实了先前报道的偏向IGHV未突变亚型的情况。RCC1::IRF4融合是CLL的一个罕见亚群的特征。
