ArticleCancers2022
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Article in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Patient experiences of tissue donation and digital consent support in primary craniospinal tumour research.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2026Article
- Real-world clinical utility of tumor whole-genome sequencing in solid cancers.Nature medicine · 2026Article
- Case Report: Synovial sarcoma with diffuse myxoid stroma and complete absence of epithelial differentiation in the extremity.Frontiers in oncology · 2026Article
- Article
- Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.Genome medicine · 2025Article
- Transcriptomic-Based Classification Identifies Prognostic Subtypes and Therapeutic Strategies in Soft Tissue Sarcomas.Cancers · 2025Article
- The role of whole-genome sequencing for guiding systemic therapy in patients with soft tissue sarcoma.ESMO open · 2025Article
- Review
- Article
- Impact of comprehensive genomic profiling on the diagnosis and clinical management of malignant mesenchymal tumours.Pathology oncology research : POR · 2025Article
- MAPK-targeted therapies in non-gastrointestinal stromal tumor soft tissue sarcomas: current landscape and future directions.Frontiers in oncology · 2025Review
- Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma.Journal of personalized medicine · 2024Article
- Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.NPJ precision oncology · 2023Article
- The Future of Precision Oncology.International journal of molecular sciences · 2023Review
- Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.JCO precision oncology · 2022Review
- Complete genomic characterization in patients with cancer of unknown primary origin in routine diagnostics.ESMO open · 2022Article
- Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report.Case reports in oncologyArticle
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
With more than 70 different histological sarcoma subtypes, accurate classification can be challenging. Although characteristic genetic events can largely facilitate pathological assessment, large-scale molecular profiling generally is not part of regular diagnostic workflows for sarcoma patients. We hypothesized that whole genome sequencing (WGS) optimizes clinical care of sarcoma patients by detection of diagnostic and actionable genomic characteristics, and of underlying hereditary conditions. WGS of tumor and germline DNA was incorporated in the diagnostic work-up of 83 patients with a (presumed) sarcomas in a tertiary referral center. Clinical follow-up data were collected prospectively to assess impact of WGS on clinical decision making. In 12/83 patients (14%), the genomic profile led to revision of cancer diagnosis, with change of treatment plan in eight. All twelve patients had undergone multiple tissue retrieval procedures and immunohistopathological assessments by regional and expert pathologists prior to WGS analysis. Actionable biomarkers with therapeutic potential were identified for 30/83 patients. Pathogenic germline variants were present in seven patients. In conclusion, unbiased genomic characterization with WGS identifies genomic biomarkers with direct clinical implications for sarcoma patients. Given the diagnostic complexity and high unmet need for new treatment opportunities in sarcoma patients, WGS can be an important extension of the diagnostic arsenal of pathologists.
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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.