Evidence map›Paper›PMID 39406248›Full record

ArticleBritish journal of haematology2024

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

Sandrine Jayne, Cristina López, Natalie Put, Inga Nagel, Els Lierman, Eva Maria Murga Penas, Lucienne Michaux, Matthew J Ahearne, Harriet S Walter, Susanne Bens and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Sandrine JayneThe Ernest and Helen Scott Haematological Research Institute, Leicester Cancer Research Centre, University of Leicester, Leicester, UK.ORCID https://orcid.org/0000-0003-1870-9782
Cristina LópezInstitute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein-Campus Kiel, Kiel, Germany.
Natalie PutCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Inga NagelInstitute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein-Campus Kiel, Kiel, Germany.
Els LiermanCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Eva Maria Murga PenasInstitute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein-Campus Kiel, Kiel, Germany.
Lucienne MichauxCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Matthew J AhearneThe Ernest and Helen Scott Haematological Research Institute, Leicester Cancer Research Centre, University of Leicester, Leicester, UK.ORCID https://orcid.org/0000-0002-2037-3926
Harriet S WalterThe Ernest and Helen Scott Haematological Research Institute, Leicester Cancer Research Centre, University of Leicester, Leicester, UK.ORCID https://orcid.org/0000-0003-2618-711X
Susanne BensInstitute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein-Campus Kiel, Kiel, Germany.
Cosima DrewesInstitute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Monika SzczepanowskiHematopathology Section, Christian-Albrechts-University Kiel, Kiel, Germany.
Matthias SchlesnerBioinformatics and Omics Data Analytics (B240), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Philip RosenstielInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany.
Iwona WlodarskaCentro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Reiner SiebertInstitute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Martin J S DyerThe Ernest and Helen Scott Haematological Research Institute, Leicester Cancer Research Centre, University of Leicester, Leicester, UK.ORCID https://orcid.org/0000-0002-5033-2236

Funding

Bundersministerium fur Bildung und Forschung (BMBF) 01KU1505EBundersministerium fur Bildung und Forschung (BMBF) 01KU1505GBundersministerium fur Bildung und Forschung (BMBF) ICGC DE-MiningCancer Research UK in conjunction with the UK Department of Health on an Experimental Cancer Medicine Centre grant C10604/A25151Departament d'Empresa i Coneixement de la Generalitat de Catalunya postdoctoral Beatriu de Pinós grantDeutsche Forschungsgemeinschaft SFB1074 (project B10N)Fonds Wetenschappelijk OnderzoekGerman Ministry of Science and Education 01KU1002A-JGerman Ministry of Science and Education ICGC MMML-SeqHORIZON EUROPE Marie Sklodowska-Curie Actions 2018-BP-00055Scott-Waudby TrustStichting tegen Kanker
6 · The paper itself

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.

Indexed as

Chromosomes, Human, Pair 6Interferon Regulatory FactorsLeukemia, Lymphocytic, Chronic, B-CellTranslocation, GeneticAgedCell Cycle ProteinsChromosomes, Human, Pair 1FemaleGuanine Nucleotide Exchange FactorsHumansInterferon Regulatory Factor-4MaleMiddle AgedNuclear ProteinsOncogene Proteins, FusionCell Cycle ProteinsGuanine Nucleotide Exchange FactorsInterferon Regulatory Factor-4Interferon Regulatory FactorsNuclear ProteinsOncogene Proteins, Fusionchromosomal translocationCLLIRF4

Identifiers

PMID39406248
PMCPMC11637728

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.