Evidence map›Paper›PMID 21286759›Full record

ArticleJournal of gastroenterology2011

A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours.

Isabelle Hostein, Maria Debiec-Rychter, Sylvianne Olschwang, Pierre-Paul Bringuier, Louisa Toffolati, David Gonzalez, Sébastien Forget, Fabienne Escande, Lucyna Morzuch, Elena Tamborini and 5 more

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In one paragraph

Article in Journal of gastroenterology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 11% 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, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. FoxM1 is regulated by both HIF-1α and HIF-2α and contributes to gastrointestinal stromal tumor progression.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2019
    Article
  4. Article
  5. Article
  6. Molecular characterization of an Italian series of sporadic GISTs.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2013
    Article
  7. Article
  8. Tyrosine-kinase mutations in c-KIT and PDGFR-alpha genes of imatinib naïve adult patients with gastrointestinal stromal tumours (GISTs) of the stomach and small intestine: relation to tumour-biological risk-profile and long-term outcome.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2012
    Article
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

15 authors at 11 institutions in 5 countries.

Isabelle HosteinDepartment of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076 Bordeaux Cedex, France. hostein@bergonie.org
Maria Debiec-Rychter
Sylvianne Olschwang
Pierre-Paul Bringuier
Louisa Toffolati
David Gonzalez
Sébastien Forget
Fabienne Escande
Lucyna Morzuch
Elena Tamborini
Nicolas Faur
Silvana Pilotti
Paolo Dei Tos
Jean-François Emile
Jean-Michel Coindre
Institut Bergonié · FRCa' Foncello Hospital · ITFondazione IRCCS Istituto Nazionale dei Tumori · ITCentre de Recherche en Cancérologie de Lyon · FRGdańsk Medical University · PLHôpital Ambroise-Paré · FRInserm · FRInstitute of Cancer Research · GBInstitut Gustave Roussy · FRKU Leuven · BEPathological Society · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlthough most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in the management of the disease.

methodTo evaluate and improve laboratory practice in GIST mutation detection, we developed a mutational screening quality control program. Eleven laboratories were enrolled in this program and 50 DNA samples were analysed, each of them by four different laboratories, giving 200 mutational reports.

resultsIn total, eight mutations were not detected by at least one laboratory. One false positive result was reported in one sample. Thus, the mean global rate of error with clinical implication based on 200 reports was 4.5%. Concerning specific polymorphisms detection, the rate varied from 0 to 100%, depending on the laboratory. The way mutations were reported was very heterogeneous, and some errors were detected.

conclusionThis study demonstrated that such a program was necessary for laboratories to improve the quality of the analysis, because an error rate of 4.5% may have clinical consequences for the patient.

Indexed as

DNA Mutational AnalysisDNA, NeoplasmExonsGastrointestinal Stromal TumorsGenotypeHumansLaboratoriesMutationPolymorphism, GeneticProto-Oncogene Proteins c-kitQuality ControlReceptor, Platelet-Derived Growth Factor alphaDNA, NeoplasmProto-Oncogene Proteins c-kitReceptor, Platelet-Derived Growth Factor alpha

Identifiers

PMID21286759
OpenAlexW2086032840

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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.