Evidence map›Paper›PMID 27499898›Full record

ArticleThe journal of pathology. Clinical research2015

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Nadège Presneau, Daniel Baumhoer, Sam Behjati, Nischalan Pillay, Patrick Tarpey, Peter J Campbell, Gernot Jundt, Rifat Hamoudi, David C Wedge, Peter Van Loo and 6 more

Open access · goldAbstract read
In one paragraph

Article in The journal of pathology. Clinical research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed
12.9field-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

72 citing papers in PubMed, 160 citations in OpenAlex.

  1. Article
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  17. Giant Cell Tumor of Soft Tissue: An Updated Review.Journal of clinical medicine · 2024
    Review
  18. Article
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12 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

16 authors at 8 institutions in 3 countries.

Nadège PresneauUCL Cancer Institute, University College LondonHuntley StreetLondonUK; Sarah Cannon-University College London Advanced Diagnostics Molecular Profiling Research LaboratoriesUCL Cancer Institute, UCLLondonUK; Present address: Department of Biomedical SciencesFaculty of Science and TechnologyUniversity of WestminsterW1W 6UWUK.
Daniel BaumhoerBone Tumour Reference Centre at the Institute of Pathology University Hospital Basel Basel Switzerland.
Sam BehjatiCancer Genome Project Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Cambridgeshire UK.
Nischalan PillayDepartment of Histopathology Royal National Orthopaedic Hospital NHS Trust Middlesex UK.
Patrick TarpeyCancer Genome Project Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Cambridgeshire UK.
Peter J CampbellCancer Genome Project Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Cambridgeshire UK.
Gernot JundtBone Tumour Reference Centre at the Institute of Pathology University Hospital Basel Basel Switzerland.
Rifat HamoudiUCL Cancer Institute, University College LondonHuntley StreetLondonUK; Sarah Cannon-University College London Advanced Diagnostics Molecular Profiling Research LaboratoriesUCL Cancer Institute, UCLLondonUK; Present address: Division of Surgery and Interventional ScienceUniversity College LondonW1W 7EJUK.
David C WedgeCancer Genome Project Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Cambridgeshire UK.
Peter Van LooCancer Genome ProjectWellcome Trust Sanger InstituteWellcome Trust Genome CampusCambridgeshireUK; Department of Human GeneticsUniversity of LeuvenLeuvenBelgium.
A Bassim HassanCR-UK Tumour Growth Group Oxford Molecular Pathology Institute Sir William Dunn School of Pathology University of Oxford Oxford UK.
Bhavisha KhatriDepartment of Histopathology Royal National Orthopaedic Hospital NHS Trust Middlesex UK.
Hongtao YeDepartment of Histopathology Royal National Orthopaedic Hospital NHS Trust Middlesex UK.
Roberto TiraboscoDepartment of Histopathology Royal National Orthopaedic Hospital NHS Trust Middlesex UK.
M Fernanda AmaryDepartment of Histopathology Royal National Orthopaedic Hospital NHS Trust Middlesex UK.
Adrienne M FlanaganUCL Cancer Institute, University College LondonHuntley StreetLondonUK; Sarah Cannon-University College London Advanced Diagnostics Molecular Profiling Research LaboratoriesUCL Cancer Institute, UCLLondonUK; Department of HistopathologyRoyal National Orthopaedic Hospital NHS TrustMiddlesexUK.
Wellcome Sanger Institute · GBRoyal National Orthopaedic Hospital NHS Trust · GBUniversity College London · GBUniversity Hospital of Basel · CHCRUK Lung Cancer Centre of Excellence · GBKU Leuven · BESarah Cannon Research Institute · GBUniversity of Oxford · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Driver mutations in the two histone 3.3 (H3.3) genes, H3F3A and H3F3B, were recently identified by whole genome sequencing in 95% of chondroblastoma (CB) and by targeted gene sequencing in 92% of giant cell tumour of bone (GCT). Given the high prevalence of these driver mutations, it may be possible to utilise these alterations as diagnostic adjuncts in clinical practice. Here, we explored the spectrum of H3.3 mutations in a wide range and large number of bone tumours (n = 412) to determine if these alterations could be used to distinguish GCT from other osteoclast-rich tumours such as aneurysmal bone cyst, nonossifying fibroma, giant cell granuloma, and osteoclast-rich malignant bone tumours and others. In addition, we explored the driver landscape of GCT through whole genome, exome and targeted sequencing (14 gene panel). We found that H3.3 mutations, namely mutations of glycine 34 in H3F3A, occur in 96% of GCT. We did not find additional driver mutations in GCT, including mutations in IDH1, IDH2, USP6, TP53. The genomes of GCT exhibited few somatic mutations, akin to the picture seen in CB. Overall our observations suggest that the presence of H3F3A p.Gly34 mutations does not entirely exclude malignancy in osteoclast-rich tumours. However, H3F3A p.Gly34 mutations appear to be an almost essential feature of GCT that will aid pathological evaluation of bone tumours, especially when confronted with small needle core biopsies. In the absence of H3F3A p.Gly34 mutations, a diagnosis of GCT should be made with caution.

Indexed as

giant cell granulomagiant cell tumour of boneH3F3AH3F3Bmalignant giant cell tumour of bonesolid variant of aneurysmal bone cystUSP6

Identifiers

PMID27499898
PMCPMC4858131
OpenAlexW1819350126

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

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.