Evidence map›Paper›PMID 28064239›Full record

ArticleBlood2017

Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma.

Kilannin Krysiak, Felicia Gomez, Brian S White, Matthew Matlock, Christopher A Miller, Lee Trani, Catrina C Fronick, Robert S Fulton, Friederike Kreisel, Amanda F Cashen and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
111citing papers in PubMed, 2 pooled it
12.5field-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

111 citing papers in PubMed, 2 syntheses or guidelines pooled it, 183 citations in OpenAlex.

  1. Pooled it
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  15. Hv1 channel in immune cells and pharmacology.Pharmacological research · 2025
    Review
  16. Article
  17. Article
  18. Article
  19. Review
  20. Audit of B-cell cancer genes.Blood advances · 2025
    Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 3 institutions in 1 country.

Kilannin KrysiakMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0002-6299-9230
Felicia GomezMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0003-4884-7510
Brian S WhiteMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0002-2954-4410
Matthew MatlockMcDonnell Genome Institute, Department of Medicine.
Christopher A MillerMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0003-4266-6700
Lee TraniMcDonnell Genome Institute, Department of Medicine.
Catrina C FronickMcDonnell Genome Institute, Department of Medicine.
Robert S FultonMcDonnell Genome Institute, Department of Medicine.
Friederike KreiselSiteman Cancer Center.
Amanda F CashenDivision of Oncology, Department of Medicine.
Kenneth R CarsonDivision of Oncology, Department of Medicine.
Melissa M Berrien-ElliottDivision of Oncology, Department of Medicine.ORCID 0000-0002-7319-9159
Nancy L BartlettDivision of Oncology, Department of Medicine.
Malachi GriffithMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0002-6388-446X
Obi L GriffithMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0002-0843-4271
Todd A FehnigerMcDonnell Genome Institute, Department of Medicine.ORCID 0000-0002-8705-2887
National Human Genome Research Institute · USUniversity Hospitals Seidman Cancer Center · USWashington University in St. Louis · US

Funding

Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI TIMOTHY J. EBERLEIN · 2001 to 2026
$128.0M
Integrated Analysis & Interpretation of Whole Genome Exome & Transcriptome SequenR00HG007940 · NHGRI · WASHINGTON UNIVERSITY · PI GRIFFITH, MALACHI · 2017 to 2019
$724k
DEFINING THE REGULATORY, NON-CODING, MUTATIONAL LANDSCAPE OF BREAST CANCERK22CA188163 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2014 to 2016
$515k
INTEGRATED ANALYSIS & INTERPRETATION OF WHOLE GENOME, EXOME & TRANSCRIPTOME SEQUENCE DATA IN CANCERK99HG007940 · NHGRI · WASHINGTON UNIVERSITY · PI GRIFFITH, MALACHI · 2015 to 2016
$264k
NCI NIH HHS K22 CA188163NCI NIH HHS P30 CA091842NHGRI NIH HHS K99 HG007940NHGRI NIH HHS R00 HG007940
6 · The paper itself

Abstract

Follicular lymphoma (FL) is the most common form of indolent non-Hodgkin lymphoma, yet it remains only partially characterized at the genomic level. To improve our understanding of the genetic underpinnings of this incurable and clinically heterogeneous disease, whole-exome sequencing was performed on tumor/normal pairs from a discovery cohort of 24 patients with FL. Using these data and mutations identified in other B-cell malignancies, 1716 genes were sequenced in 113 FL tumor samples from 105 primarily treatment-naive individuals. We identified 39 genes that were mutated significantly above background mutation rates. CREBBP mutations were associated with inferior PFS. In contrast, mutations in previously unreported HVCN1, a voltage-gated proton channel-encoding gene and B-cell receptor signaling modulator, were associated with improved PFS. In total, 47 (44.8%) patients harbor mutations in the interconnected B-cell receptor (BCR) and CXCR4 signaling pathways. Histone gene mutations were more frequent than previously reported (identified in 43.8% of patients) and often co-occurred (17.1% of patients). A novel, recurrent hotspot was identified at a posttranslationally modified residue in the histone H2B family. This study expands the number of mutated genes described in several known signaling pathways and complexes involved in lymphoma pathogenesis (BCR, Notch, SWitch/sucrose nonfermentable (SWI/SNF), vacuolar ATPases) and identified novel recurrent mutations (EGR1/2, POU2AF1, BTK, ZNF608, HVCN1) that require further investigation in the context of FL biology, prognosis, and treatment.

Indexed as

Gene Expression Regulation, NeoplasticAdultAgammaglobulinaemia Tyrosine KinaseAgedAged, 80 and overCREB-Binding ProteinDisease-Free SurvivalEarly Growth Response Protein 1FemaleGene Expression ProfilingHistonesHumansIon ChannelsLymphoma, FollicularMaleMiddle AgedAgammaglobulinaemia Tyrosine KinaseBCL6B protein, humanBTK protein, humanCREB-Binding ProteinCREBBP protein, humanCXCR4 protein, humanEarly Growth Response Protein 1EGR1 protein, humanHistonesHVCN1 protein, humanIon ChannelsPOU2AF1 protein, humanProtein-Tyrosine KinasesReceptors, Antigen, B-CellReceptors, CXCR4Receptors, NotchRepressor ProteinsTrans-ActivatorsVacuolar Proton-Translocating ATPases

Identifiers

PMID28064239
PMCPMC5270390
OpenAlexW2551251192

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.