Evidence map›Paper›PMID 24943832›Full record

ArticleLeukemia2015

Recurrent mutations refine prognosis in chronic lymphocytic leukemia.

P Baliakas, A Hadzidimitriou, L-A Sutton, D Rossi, E Minga, N Villamor, M Larrayoz, J Kminkova, A Agathangelidis, Z Davis and 25 more

Abstract read
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In one paragraph

Article in Leukemia, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
146citing papers in PubMed, 2 pooled it
22.2field-weighted citation impact, top 1% of its field
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

146 citing papers in PubMed, 2 syntheses or guidelines pooled it, 274 citations in OpenAlex.

  1. Pooled it
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  8. Article
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  14. Association of Genetic Variants at theInternational journal of molecular sciences · 2024
    Article
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  18. Life science alliance · 2023
    Article
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  20. Article

86 more citing papers are in PubMed but not listed here.

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

35 authors at 16 institutions in 7 countries.

P Baliakas1] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden [2] Hematology Department and HCT Unit, G Papanicolaou Hospital, Thessaloniki, Greece.
A Hadzidimitriou1] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden [2] Institute of Applied Biosciences, CERTH, Thessaloniki, Greece.
L-A SuttonScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
D RossiDivision of Haematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
E MingaInstitute of Applied Biosciences, CERTH, Thessaloniki, Greece.
N VillamorHematopathology Unit and Department of Hematology, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
M LarrayozCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
J KminkovaCentral European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
A Agathangelidis1] Università Vita-Salute San Raffaele, Milan, Italy [2] Division of Molecular Oncology and Department of Onco-Hematology, San Raffaele Scientific Institute, Milan, Italy.
Z DavisDepartment of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
E TauschDepartment of Internal Medicine III, Ulm University, Ulm, Germany.
E StalikaHematology Department and HCT Unit, G Papanicolaou Hospital, Thessaloniki, Greece.
B KantorovaCentral European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
L MansouriScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
L Scarfò1] Università Vita-Salute San Raffaele, Milan, Italy [2] Division of Molecular Oncology and Department of Onco-Hematology, San Raffaele Scientific Institute, Milan, Italy.
D CorteseScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
V NavrkalovaCentral European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
M J J Rose-ZerilliCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
K E SmedbyDepartment of Medicine, Solna, Clinical Epidemiology Unit, Karolinska Institutet, Stockholm, Sweden.
G JuliussonLund University and Hospital Department of Hematology, Lund Stem Cell Center, Lund, Sweden.
A AnagnostopoulosHematology Department and HCT Unit, G Papanicolaou Hospital, Thessaloniki, Greece.
A M MakrisInstitute of Applied Biosciences, CERTH, Thessaloniki, Greece.
A NavarroHematopathology Unit and Department of Hematology, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
J DelgadoHematopathology Unit and Department of Hematology, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
D OscierDepartment of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
C BelessiHematology Department, Nikea General Hospital, Pireaus, Greece.
S StilgenbauerDepartment of Internal Medicine III, Ulm University, Ulm, Germany.
P Ghia1] Università Vita-Salute San Raffaele, Milan, Italy [2] Division of Molecular Oncology and Department of Onco-Hematology, San Raffaele Scientific Institute, Milan, Italy.
S PospisilovaCentral European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
G GaidanoDivision of Haematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
E CampoHematopathology Unit and Department of Hematology, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
J C StreffordCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
K Stamatopoulos1] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden [2] Hematology Department and HCT Unit, G Papanicolaou Hospital, Thessaloniki, Greece [3] Institute of Applied Biosciences, CERTH, Thessaloniki, Greece.
R RosenquistScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
European Research Initiative on CLL (ERIC)
Centre for Research and Technology Hellas · GRScience for Life Laboratory · SEUniversitat de Barcelona · ESUniversity Hospital Brno · CZUniversity of Southampton · GBUppsala University · SEVita-Salute San Raffaele University · ITG. Papanikolaou General Hospital · GRRoyal Bournemouth Hospital · GBUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro” · ITUniversität Ulm · DECentral European Institute of Technology · CZConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESGeneral Hospital of Nikea · GRKarolinska Institutet · SELund University · SE

Funding

Bloodwise 11052Bloodwise 12036
6 · The paper itself

Abstract

Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%). BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL. NOTCH1, SF3B1 and TP53 exhibited variable frequencies and were mostly enriched within clinically aggressive cases. Interestingly, as the timespan between diagnosis and mutational screening increased, so too did the incidence of SF3B1 mutations; no such increase was observed for NOTCH1 mutations. Regarding the clinical impact, NOTCH1 mutations, SF3B1 mutations and TP53 aberrations (deletion/mutation, TP53ab) correlated with shorter time-to-first-treatment (P<0.0001) in 889 treatment-naive Binet stage A cases. In multivariate analysis (n=774), SF3B1 mutations and TP53ab along with del(11q) and U-CLL, but not NOTCH1 mutations, retained independent significance. Importantly, TP53ab and SF3B1 mutations had an adverse impact even in U-CLL. In conclusion, we support the clinical relevance of novel recurrent mutations in CLL, highlighting the adverse impact of SF3B1 and TP53 mutations, even independent of IGHV mutational status, thus underscoring the need for urgent standardization/harmonization of the detection methods.

Indexed as

MutationAgedCytogeneticsDNA Mutational AnalysisEuropeFemaleGene DeletionHumansLeukemia, Lymphocytic, Chronic, B-CellMaleMiddle AgedMultivariate AnalysisPhosphoproteinsPolymorphism, Single NucleotidePrognosisReceptor, Notch1NOTCH1 protein, humanPhosphoproteinsReceptor, Notch1Ribonucleoprotein, U2 Small NuclearRNA Splicing FactorsSF3B1 protein, humanTP53 protein, humanTumor Suppressor Protein p53

Identifiers

PMID24943832
OpenAlexW1973388908

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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.