ArticleNature genetics2014
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
169citing papers in PubMed, 2 pooled it
14.5field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
169 citing papers in PubMed, 2 syntheses or guidelines pooled it, 312 citations in OpenAlex.
- Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.Nature communications · 2025Pooled it
- Angiosarcoma: a systematic review of biomarkers in diagnosis, prognosis, and therapeutic strategies.Frontiers in oncology · 2025Pooled it
- A phase II study of ENMD-2076 in advanced soft tissue sarcoma (STS).Scientific reports · 2019Trial
- Trial
- Primary cardiac angiosarcoma: From pathogenesis to therapeutic strategies.Medical oncology (Northwood, London, England) · 2026Review
- Primary Bone Vascular Neoplasms: An Integrated Biological Perspective from Bone Pathology to Precision Oncology.Cancers · 2026Review
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- <p>Tumor microenvironment in bone sarcomas: Implications for immunotherapy and emerging therapeutic vulnerabilities (Review)</p>.Oncology reports · 2026Review
- Primary splenic angiosarcoma presenting with multiple bone destruction as the initial manifestation: a case report and narrative review.Frontiers in oncology · 2026Article
- Integrative DNA methylation and transcriptome analysis reveal cell-type specific patterns in response to elevated allostatic load.Epigenetics · 2025Article
- Characterisation of an allosteric site in PLCγ enzymes and implications for development of their specific inhibitors.The Biochemical journal · 2025Article
- Hyperactive PLCG1 induces cell-autonomous and bystander T cell activation and drug resistance.EMBO reports · 2025Article
- Heterozygous variants ineLife · 2025Article
- Article
- Clinicopathological features, treatment outcomes, and prognostic factors of angiosarcoma: a 21-year experience at one center.Orphanet journal of rare diseases · 2025Article
- Dissecting the tumor microenvironment in primary breast angiosarcoma: insights from single-cell RNA sequencing.Breast cancer research : BCR · 2025Article
- Clinicopathologic and Molecular Analysis of Primary Angiosarcoma of Bone-A Single Institution Experience.Genes, chromosomes & cancer · 2025Article
- Genomic landscape and preclinical models of angiosarcoma.Molecular oncology · 2025Review
- PIK3CA mutation fortifies molecular determinants for immune signaling in vascular cancers.Cancer gene therapy · 2025Article
- Angiosarcoma Revisited: Diagnostic Challenges and a 16-Year Retrospective Analysis from a Single Institution.Iranian journal of pathology · 2025Article
109 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
50 authors at 11 institutions in 6 countries.
Sam Behjati *Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Patrick S Tarpey *Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Helen Sheldon *The Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
Inigo MartincorenaCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Peter Van LooCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Gunes GundemCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
David C WedgeCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Manasa RamakrishnaCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Susanna L CookeCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Nischalan PillayHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Hans Kristian M VollanCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Elli PapaemmanuilCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Hans KossInstitute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK.
Tom D BunneyInstitute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK.
Claire HardyCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Olivia R JosephCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Sancha MartinCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Laura MudieCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Adam ButlerCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Jon W TeagueCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Meena PatilDepartment of Pathology, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Graham SteersDepartment of Pathology, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Yu CaoM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Curtis GumbsM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Davis IngramM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Alexander J LazarM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Latasha LittleM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Harshad MahadeshwarM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Alexei ProtopopovM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Ghadah A Al SannaaM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Sahil SethM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Xingzhi SongM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Jiabin TangM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Jianhua ZhangM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Vinod RaviM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Keila E TorresM. D. Anderson Cancer Center, The University of Texas, 1901 East Road, Houston, Texas 77054, USA.
Bhavisha KhatriHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Dina HalaiHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Ioannis RoxanisDepartment of Pathology, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Daniel BaumhoerBone Tumour Reference Centre, Institute of Pathology, University Hospital Basel, Basel, Institute for Applied Cancer Science, Switzerland.
Roberto TiraboscoHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
M Fernanda AmaryHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Chris BoshoffUniversity College London Cancer Institute, Huntley Street, London, WC1E 6BT, UK.
Ultan McDermottCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Matilda KatanInstitute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK.
Michael R StrattonCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
P Andrew FutrealCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Adrienne M FlanaganHistopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Adrian HarrisThe Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
Peter J CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Wellcome Sanger Institute · GBThe University of Texas MD Anderson Cancer Center · USNational Health Service · GBJohn Radcliffe Hospital · GBInstitute of Structural and Molecular Biology · GBUniversity of Cambridge · GBOslo University Hospital · NOPfizer (United States) · USRoyal National Orthopaedic Hospital · GBUniversity Hospital of Basel · CHUniversity of Oxford · GB
Funding
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8MAxl receptor signaling in MPNST; potential node for therapyK08CA160443 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI TORRES, KEILA ENITT · 2012 to 2016
$853kCancer Research UK 11359Cancer Research UK 16567NCI NIH HHS K08 CA160443NCI NIH HHS P30 CA016672Wellcome Trust 077012/Z/05/ZWellcome Trust 088340Wellcome Trust 093867Wellcome Trust 098051
Abstract
Angiosarcoma is an aggressive malignancy that arises spontaneously or secondarily to ionizing radiation or chronic lymphoedema. Previous work has identified aberrant angiogenesis, including occasional somatic mutations in angiogenesis signaling genes, as a key driver of angiosarcoma. Here we employed whole-genome, whole-exome and targeted sequencing to study the somatic changes underpinning primary and secondary angiosarcoma. We identified recurrent mutations in two genes, PTPRB and PLCG1, which are intimately linked to angiogenesis. The endothelial phosphatase PTPRB, a negative regulator of vascular growth factor tyrosine kinases, harbored predominantly truncating mutations in 10 of 39 tumors (26%). PLCG1, a signal transducer of tyrosine kinases, encoded a recurrent, likely activating p.Arg707Gln missense variant in 3 of 34 cases (9%). Overall, 15 of 39 tumors (38%) harbored at least one driver mutation in angiogenesis signaling genes. Our findings inform and reinforce current therapeutic efforts to target angiogenesis signaling in angiosarcoma.
Indexed as
Analysis of VarianceBase SequenceExomeHemangiosarcomaHumansHuman Umbilical Vein Endothelial CellsMolecular Sequence DataMutationNeovascularization, PathologicPhospholipase C gammaReceptor-Like Protein Tyrosine Phosphatases, Class 3RNA InterferenceSequence Analysis, RNAVascular Endothelial Growth Factor APhospholipase C gammaPLCG1 protein, humanPTPRB protein, humanReceptor-Like Protein Tyrosine Phosphatases, Class 3Vascular Endothelial Growth Factor AVEGFA protein, human
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