ArticleCancer science2022
Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma.
Article in Cancer science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Next-Generation Sequencing in Translational Sarcoma Research: Biological Insights and Emerging Directions.Current oncology reports · 2026Review
- Clinical Utility of an RNA-based Gene Fusion Assay in Sarcoma for Diagnosis and Management: Experience in an Australian Laboratory.Molecular diagnosis & therapy · 2026Article
- LncRNA LUCAT1 as a prognostic biomarker in cholangiocarcinoma through targeting miR-141-3p: clinical and functional insights.Hereditas · 2025Article
- High mobility group protein 2 (HMGA2) is highly expressed in a broad range of benign and malignant tumors.Virchows Archiv : an international journal of pathology · 2025Article
- Superiority of targeted RNA sequencing for fusion detection and subtype diagnosis in Chinese sarcoma patients: a multicenter study.Experimental hematology & oncology · 2025Article
- Clinical Implementation of Expanded Solid Tumor Fusion Detection With Whole-Transcriptome Sequencing at an Academic Cancer Center.JCO precision oncology · 2025Article
- An accurate DNA and RNA based targeted sequencing assay for clinical detection of gene fusions in solid tumors.Scientific reports · 2025Article
- Identification of a novelTherapeutic advances in medical oncology · 2025Article
- Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours.The journal of pathology. Clinical research · 2024Article
- Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma.Cancer science · 2022Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene fusions are one of the most common genomic alterations in soft tissue sarcomas (STS), which contain more than 70 subtypes. In this study, a custom-designed RNA sequencing panel including 67 genes was developed and validated to identify gene fusions in STS. In total, 92 STS samples were analyzed using the RNA panel and 95.7% (88/92) successfully passed all the quality control parameters. Fusion transcripts were detected in 60.2% (53/88) of samples, including three novel fusions (MEG3-PLAG1, SH3BP1-NTRK1, and RPSAP52-HMGA2). The panel demonstrated excellent analytic accuracy, with 93.9% sensitivity and 100% specificity. The intra-assay, inter-assay, and personnel consistencies were all 100.0% in four samples and three replicates. In addition, different variants of ESWR1-FLI, COL1A1-PDGFB, NAB2-STAT6, and SS18-SSX were also identified in the corresponding subtypes of STS. In combination with histological and molecular diagnosis, 14.8% (13/88) patients finally changed preliminary histology-based classification. Collectively, this RNA panel developed in our study shows excellent performance on RNA from formalin-fixed, paraffin-embedded samples and can complement DNA-based assay, thereby facilitating precise diagnosis and novel fusion detection.
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