Evidence map›Paper›PMID 24127483›Full record

ArticleThe Journal of experimental medicine2013

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Giulia Fabbri, Hossein Khiabanian, Antony B Holmes, Jiguang Wang, Monica Messina, Charles G Mullighan, Laura Pasqualucci, Raul Rabadan, Riccardo Dalla-Favera

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in The Journal of experimental medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03619512 (Genomic and Proteomic Study of Richter Syndrome), which is not on this map. Cited by 154 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
154citing papers in PubMed, 2 pooled it
10.1field-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.

NCT03619512 unknown statusnot on this mapstarted 2017, after this paper: background citation

Genomic and Proteomic Study of Richter Syndrome

TypeobservationalSponsorCentral Hospital, Nancy, FranceRan2017 to 2024Enrolled170ConditionsRichter SyndromeArmsWhole exome sequencing., RNA sequencing, Mass spectrometry
3 · Its place in the literature

Who cites it

154 citing papers in PubMed, 2 syntheses or guidelines pooled it, 296 citations in OpenAlex.

  1. A genetic profiling guideline to support diagnosis and clinical management of lymphomas.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024
    Guideline
  2. Chronic lymphocytic leukemia/small lymphocytic lymphoma, version 1.2015.Journal of the National Comprehensive Cancer Network : JNCCN · 2015
    Guideline
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94 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

9 authors at 4 institutions in 2 countries.

Giulia FabbriInstitute for Cancer Genetics, Herbert Irving Comprehensive Cancer Center, 2 Department of Pathology and Cell Biology, 3 Departments of Genetics and Development and of Microbiology and Immunology and 4 Department of Biomedical Informatics and Center for Computational Biology and Bioinformatics, Columbia University, New York, NY 10032.
Hossein Khiabanian
Antony B Holmes
Jiguang Wang
Monica Messina
Charles G Mullighan
Laura Pasqualucci
Raul Rabadan
Riccardo Dalla-Favera
Cancer Genetics (United States) · USColumbia University · USHerbert Irving Comprehensive Cancer CenterSt. Jude Children's Research Hospital · US

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI SUZANNE J. BAKER · 1985 to 2026
$166.9M
From pathogenesis to new therapeutic targets in Diffuse Large B cell LymphomaR35CA210105 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Riccardo Dalla-Favera · 2016 to 2026
$10.0M
The Role of NOTCH1 in the Pathogenesis of CLL.R01CA177319 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DALLA-FAVERA, RICCARDO, FERRANDO, ADOLFO A. · 2013 to 2017
$1.8M
NCI NIH HHS 1R01CA177319-01NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA177319NCI NIH HHS R35 CA210105
6 · The paper itself

Abstract

Richter syndrome (RS) derives from the rare transformation of chronic lymphocytic leukemia (CLL) into an aggressive lymphoma, most commonly of the diffuse large B cell lymphoma (DLBCL) type. The molecular pathogenesis of RS is only partially understood. By combining whole-exome sequencing and copy-number analysis of 9 CLL-RS pairs and of an extended panel of 43 RS cases, we show that this aggressive disease typically arises from the predominant CLL clone by acquiring an average of ∼20 genetic lesions/case. RS lesions are heterogeneous in terms of load and spectrum among patients, and include those involved in CLL progression and chemorefractoriness (TP53 disruption and NOTCH1 activation) as well as some not previously implicated in CLL or RS pathogenesis. In particular, disruption of the CDKN2A/B cell cycle regulator is associated with ∼30% of RS cases. Finally, we report that the genomic landscape of RS is significantly different from that of de novo DLBCL, suggesting that they represent distinct disease entities. These results provide insights into RS pathogenesis, and identify dysregulated pathways of potential diagnostic and therapeutic relevance.

Indexed as

Genetic Predisposition to DiseaseApoptosis Regulatory ProteinsCell Transformation, NeoplasticChromosome DeletionClone CellsCyclin-Dependent Kinase Inhibitor p15Disease ProgressionDNA Copy Number VariationsGenome, HumanHumansLeukemia, Lymphocytic, Chronic, B-CellLymphoma, Large B-Cell, DiffuseMutationOpen Reading FramesPoint MutationRNA-Binding ProteinsApoptosis Regulatory ProteinsCDKN2AIP protein, humanCDKN2B protein, humanCyclin-Dependent Kinase Inhibitor p15RNA-Binding ProteinsTumor Suppressor Protein p53

Identifiers

PMID24127483
PMCPMC3804949
OpenAlexW2129650489

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

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.