Evidence map›Paper›PMID 30381301›Full record

ArticleHaematologica2019

TIRAP p.R81C is a novel lymphoma risk variant which enhances cell proliferation

Regula Burkhard, Irene Keller, Miroslav Arambasic, Darius Juskevicius, Alexandar Tzankov, Pontus Lundberg, Rémy Bruggmann, Stephan Dirnhofer, Ramin Radpour, Urban Novak

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

8 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
  2. Review
  3. Exploring the therapeutic potential andFrontiers in pharmacology · 2025
    Article
  4. Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.Pathobiology : journal of immunopathology, molecular and cellular biology · 2023
    Article
  5. Article
  6. Article
  7. Article
  8. 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

10 authors at 5 institutions in 1 country.

Regula BurkhardDepartment of Medical Oncology, Inselspital, Bern University Hospital.
Irene KellerInterfaculty Bioinformatics Unit, Department for BioMedical Research, and Swiss Institute of Bioinformatics, University of Bern.
Miroslav ArambasicDepartment of Medical Oncology, Inselspital, Bern University Hospital.
Darius JuskeviciusInstitute of Pathology and Medical Genetics, University of Basel.
Alexandar TzankovInstitute of Pathology and Medical Genetics, University of Basel.
Pontus LundbergDepartment of Biomedicine, Experimental Hematology, University Hospital Basel and University of Basel.
Rémy BruggmannInterfaculty Bioinformatics Unit, Department for BioMedical Research, and Swiss Institute of Bioinformatics, University of Bern.
Stephan DirnhoferInstitute of Pathology and Medical Genetics, University of Basel.
Ramin RadpourDepartment of Medical Oncology, Inselspital, Bern University Hospital.
Urban NovakDepartment of Medical Oncology, Inselspital, Bern University Hospital urban.novak@insel.ch.
University Hospital of Bern · CHUniversity of Basel · CHSIB Swiss Institute of Bioinformatics · CHUniversity Hospital of Basel · CHUniversity of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Diffuse large B-cell lymphoma is the most common malignant lymphoma in adults. By gene-expression profiling, this lymphoma is divided in three cell-of-origin subtypes with distinct molecular and clinical features. Most lymphomas arise sporadically, yet familial clustering is known, suggesting a genetic contribution to disease risk. Familial lymphoma cases are a valuable tool to investigate risk genes. We studied a Swiss/Japanese family with 2 sisters affected by a primary mediastinal B-cell lymphoma and a non-germinal center diffuse large B-cell lymphoma not otherwise specified, respectively. The somatic landscape of both lymphomas was marked by alterations affecting multiple components of the JAK-STAT pathway. Consequently, this pathway was constitutively activated as evidenced by high pJAK2 as well as increased nuclear pSTAT3 and pSTAT6 in malignant cells. Potential lymphoma risk variants were identified by whole exome sequencing of the germline DNA derived from siblings and unaffected family members. This analysis revealed a pathogenic variant in

Indexed as

B-LymphocytesLymphoma, Large B-Cell, DiffuseMediastinal NeoplasmsMembrane GlycoproteinsMutation, MissenseReceptors, Interleukin-1SiblingsAdultCell ProliferationExome SequencingFemaleHumansJanus Kinase 2MaleSignal TransductionSTAT3 Transcription FactorJAK2 protein, humanJanus Kinase 2Membrane GlycoproteinsReceptors, Interleukin-1STAT3 protein, humanSTAT3 Transcription FactorSTAT6 protein, humanSTAT6 Transcription FactorTIRAP protein, human

Identifiers

PMID30381301
PMCPMC6442981
OpenAlexW2899131221

What OpenQuestion holds

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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.