ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
A novel next generation sequencing approach to improve sarcoma diagnosis.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- Real-World Implementation of Next-Generation Sequencing in Sarcoma: Molecular Insights and Therapeutic Outcomes.Medical sciences (Basel, Switzerland) · 2026Article
- Superiority of targeted RNA sequencing for fusion detection and subtype diagnosis in Chinese sarcoma patients: a multicenter study.Experimental hematology & oncology · 2025Article
- The Importance of Next-Generation Sequencing in Identifying Immunohistochemically Ambiguous Pediatric Sarcomas.Case reports in oncological medicine · 2025Article
- The landscape of drug sensitivity and resistance in sarcoma.Cell stem cell · 2024Article
- Clinical Practice Recommendations for the Use of Next-Generation Sequencing in Patients with Solid Cancer: A Joint Report from KSMO and KSP.Cancer research and treatment · 2024Review
- Clinical practice recommendations for the use of next-generation sequencing in patients with solid cancer: a joint report from KSMO and KSP.Journal of pathology and translational medicine · 2024Review
- Artificial intelligence-augmented histopathologic review using image analysis to optimize DNA yield from formalin-fixed paraffin-embedded slides.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Genomic Profiling of Sarcomas: A Promising Weapon in the Therapeutic Arsenal.International journal of molecular sciences · 2022Article
- Clinical Implications of a Targeted RNA-Sequencing Panel in the Detection of Gene Fusions in Solid Tumors.The Journal of molecular diagnostics : JMD · 2021Article
- Validation of the EuroClonality-NGS DNA capture panel as an integrated genomic tool for lymphoproliferative disorders.Blood advances · 2021Article
- Robust detection of translocations in lymphoma FFPE samples using targeted locus capture-based sequencing.Nature communications · 2021Article
- Article
- Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing.Cancers · 2020Article
- The Use of Crizotinib in Sclerosing Epithelioid Fibrosarcoma withCase reports in oncologyArticle
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
Sarcoma is a rare disease affecting both bone and connective tissue and with over 100 pathologic entities, differential diagnosis can be difficult. Complementing immune-histological diagnosis with current ancillary diagnostic techniques, including FISH and RT-PCR, can lead to inconclusive results in a significant number of cases. We describe here the design and validation of a novel sequencing tool to improve sarcoma diagnosis. A NGS DNA capture panel containing probes for 87 fusion genes and 7 genes with frequent copy number changes was designed and optimized. A cohort of 113 DNA samples extracted from soft-tissue and bone sarcoma FFPE material with clinical FISH and/or RT-PCR results positive for either a translocation or gene amplification was used for validation of the NGS method. Sarcoma-specific translocations or gene amplifications were confirmed in 110 out of 113 cases using FISH and/or RT-PCR as gold-standard. MDM2/CDK4 amplification and a total of 25 distinct fusion genes were identified in this cohort of patients using the NGS approach. Overall, the sensitivity of the NGS panel is 97% with a specificity of 100 and 0% failure rate. Targeted NGS appears to be a feasible and cost-effective approach to improve sarcoma subtype diagnosis with the ability to screen for a wide range of genetic aberrations in one test.
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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.