ArticleNature communications2017
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers.
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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
143 citing papers in PubMed, 253 citations in OpenAlex.
- Trial
- Drug sensitivity testing of patient-derived bone sarcomas identifies selective kinase inhibitors for patients with refractory disease.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Clustered structural variant hotspots enable oncogenic addiction and plasticity in osteosarcoma.bioRxiv : the preprint server for biology · 2026Article
- IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo.FEBS open bio · 2026Article
- Genomic landscape and tumor immune microenvironment of osteosarcoma: Bridging mechanistic insights to precision therapeutics.Bone reports · 2026Review
- LL-37 inhibits osteosarcoma progression by suppressing SQLE-mediated cholesterol synthesis via the PTEN/AKT/mTOR pathway.Journal of bone oncology · 2026Article
- Analysis of a large osteosarcoma sequencing data set elucidates patterns of genomic alterations.Cancer · 2026Article
- Understanding and Overcoming Osteosarcoma Heterogeneity.Biomolecules · 2026Review
- Murine osteosarcoma recapitulates the driver landscape and genomic complexity of osteosarcoma evolution in humans.bioRxiv : the preprint server for biology · 2026Article
- An international framework for clinical translation of molecular classifiers in osteosarcoma.NPJ precision oncology · 2026Article
- The ITGB2-COPS3-SOX2 Axis and SOX2 Liquid-Liquid Phase Separation: Dual Mechanisms Governing Osteosarcoma Stemness.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Age-Stratified Transcriptomic Profiling Reveals Biologically Distinct Molecular Phenotypes Across Pediatric, Adolescent, and Adult Osteosarcoma.Biomedicines · 2026Article
- Low-Grade Fibro-Osseous Lesions With Isolated Chromosome 12 Chromothripsis: A Distinct Entity Or a Low-Grade Central Osteosarcoma With a Novel Driver?Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- Navigating the immunosuppressive abyss: current hurdles and innovative breakthroughs in neoadjuvant immunotherapy for osteosarcoma.Frontiers in immunology · 2026Review
- Advances in Nano-Drug Delivery Systems for Osteosarcoma: From Targeting Strategies to Combating Lung Metastasis.International journal of nanomedicine · 2026Review
- A new paradigm for retroperitoneal leiomyosarcoma: integrating transcriptomic subtyping and surgical risk stratification for AI-guided drug repurposing.Oncology reviews · 2026Review
- Aging-Related Mechanisms Underlying Carcinogenesis: Therapeutic Opportunities.Aging and disease · 2025Review
- Molecular and Glycosylation Pathways in Osteosarcoma: Tumor Microenvironment and Emerging Strategies Toward Personalized Oncology.Current issues in molecular biology · 2025Review
- Aberrant EZHIP expression drives tumorigenesis in osteosarcoma.Nature communications · 2025Article
- Identification of Nogo-B as a potential therapeutic target of osteosarcoma via stereochemically selective covalent probes.Cell death & disease · 2025Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
33 authors at 11 institutions in 6 countries.
Funding
Abstract
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date, comprising 112 childhood and adult tumours encompassing all major histological subtypes. A key finding of our study is the identification of mutations in insulin-like growth factor (IGF) signalling genes in 8/112 (7%) of cases. We validate this observation using fluorescence in situ hybridization (FISH) in an additional 87 osteosarcomas, with IGF1 receptor (IGF1R) amplification observed in 14% of tumours. These findings may inform patient selection in future trials of IGF1R inhibitors in osteosarcoma. Analysing patterns of mutation, we identify distinct rearrangement profiles including a process characterized by chromothripsis and amplification. This process operates recurrently at discrete genomic regions and generates driver mutations. It may represent an age-independent mutational mechanism that contributes to the development of osteosarcoma in children and adults alike.
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Registered trials
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.