ArticleBritish journal of cancer2024
Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma.
Article in British journal of cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Nano-RAPID: Integrated Diagnosis for Sarcoma Using a Nanopore Sequencer.Genes, chromosomes & cancer · 2026Article
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.Journal of medical genetics · 2026Article
- Mesenchymal Tissue-Driven Gene Programs Identify EMP3 as a Key Biomarker of Aggressiveness in Undifferentiated Sarcomas.International journal of molecular sciences · 2026Article
- Clinical Utility of an RNA-based Gene Fusion Assay in Sarcoma for Diagnosis and Management: Experience in an Australian Laboratory.Molecular diagnosis & therapy · 2026Article
- Case Report: A case series on actionable genomic alterations guiding effective targeted therapy in rare sarcomas.Frontiers in oncology · 2026Article
- Article
- Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.Genome medicine · 2025Article
- The role of whole-genome sequencing for guiding systemic therapy in patients with soft tissue sarcoma.ESMO open · 2025Article
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Review
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
- Impact of comprehensive genomic profiling on the diagnosis and clinical management of malignant mesenchymal tumours.Pathology oncology research : POR · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
backgroundSarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options for metastatic/unresectable disease limited. Many sarcomas have distinctive molecular alterations, but the range of alterations is large, variable in type and rapidly increasing, meaning that testing by limited panels is unable to capture the broad spectrum of clinically pertinent genomic drivers required. Paired whole genome sequencing (WGS) in contrast allows comprehensive assessment of small variants, copy number and structural variants along with mutational signature analysis and germline testing.
methodsIntroduction of WGS as a diagnostic standard for all eligible patients with known or suspected soft tissue sarcoma over a 2-year period at a soft tissue sarcoma treatment centre.
resultsWGS resulted in a refinement in the diagnosis in 37% of cases, identification of a target for personalised therapy in 33% of cases, and a germline alteration in 4% of cases.
conclusionIntroduction of WGS poses logistical and training challenges, but offers significant benefits to this group of patients.
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