ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2018
Comparison of Molecular Testing Modalities for Detection of ROS1 Rearrangements in a Cohort of Positive Patient Samples.
Article in Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 3 of them syntheses that pooled it.
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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
80 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Japanese Society of Medical Oncology/Japan Society of Clinical Oncology/Japanese Society of Pediatric Hematology/Oncology-led clinical recommendations on the diagnosis and use of tropomyosin receptor kinase inhibitors in adult and pediatric patients with neurotrophic receptor tyrosine kinase fusion-positive advanced solid tumors.International journal of clinical oncology · 2023Guideline
- Updated guidelines for predictive biomarker testing in advanced non-small-cell lung cancer: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Guideline
- Japan society of clinical oncology/Japanese society of medical oncology-led clinical recommendations on the diagnosis and use of tropomyosin receptor kinase inhibitors in adult and pediatric patients with neurotrophic receptor tyrosine kinase fusion-positive advanced solid tumors, cooperated by the Japanese society of pediatric hematology/oncology.International journal of clinical oncology · 2020Guideline
- Identification of a RAS-activatingClinical cancer research : an official journal of the American Association for Cancer Research · 2020Trial
- A combined gene expression tool for parallel histological prediction and gene fusion detection in non-small cell lung cancer.Scientific reports · 2019Trial
- An emerging melody composed of the notes from structural variants - Comment on 'The fusion characteristics of RET fusion in pan-cancer among the Chinese population: A comprehensive genomic analysis' by Chen et al.Translational oncology · 2025Article
- FGFR2 fusion/rearrangement analysis in intrahepatic cholangiocarcinoma using DNA/RNA-based NGS and FISH.Virchows Archiv : an international journal of pathology · 2025Article
- Oncogenic gene fusions in cancer: from biology to therapy.Signal transduction and targeted therapy · 2025Review
- Prognostic potential of fusion gene analysis using plasma cell-free RNA in malignant bone and soft tissue tumours.BMC cancer · 2025Article
- Identifying the IntergenicMedComm · 2025Article
- Targeting ROS1 rearrangements in non-small cell lung cancer: Current insights and future directions.Cancer · 2025Review
- Characteristics ofTherapeutic advances in medical oncology · 2025Article
- Treatment process of ALK and ROS1 double-rearranged lung adenocarcinoma cell carcinoma: a case report.AME case reports · 2025Article
- Clinical and Radiographic Benefit of a Patient With Metastatic Non-Small Cell Lung Cancer Harboring anJCO precision oncology · 2024Article
- Actionable Structural Variant Detection via RNA-NGS and DNA-NGS in Patients With Advanced Non-Small Cell Lung Cancer.JAMA network open · 2024Article
- Review
- Real-World Outcomes of Crizotinib in ROS1-Rearranged Advanced Non-Small-Cell Lung Cancer.Cancers · 2024Article
- Article
- Novel insights into molecular patterns of ROS1 fusions in a large Chinese NSCLC cohort: a multicenter study.Molecular oncology · 2023Article
- Therapeutical Options in ROS1-Rearranged Advanced Non Small Cell Lung Cancer.International journal of molecular sciences · 2023Review
20 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors.
Funding
Abstract
introductionROS1 gene fusions are a well-characterized class of oncogenic driver found in approximately 1% to 2% of NSCLC patients. ROS1-directed therapy in these patients is more efficacious and is associated with fewer side effects compared to chemotherapy and is thus now considered standard-of-care for patients with advanced disease. Consequently, accurate detection of ROS1 rearrangements/fusions in clinical tumor samples is vital. In this study, we compared the performance of three common molecular testing approaches on a cohort of ROS1 rearrangement/fusion-positive patient samples.
methodsTwenty-three ROS1 rearrangement/fusion-positive clinical samples were assessed by at least two of the following molecular testing methodologies: break-apart fluorescence in situ hybridization, DNA-based hybrid capture library preparation followed by next-generation sequencing (NGS), and RNA-based anchored multiplex polymerase chain reaction library preparation followed by NGS.
resultsNone of the testing methodologies demonstrated 100% sensitivity in detection of ROS1 rearrangements/fusions. Fluorescence in situ hybridization results were negative in 2 of 20 tested samples, the DNA-based NGS assay was negative in 4 of 18 tested samples, and the RNA-based NGS assay was negative in 3 of 19 tested samples. For all three testing approaches, we identified assay characteristics that likely contributed to false-negative results. Additionally, we report that genomic breakpoints are an unreliable predictor of breakpoints at the transcript level, likely due to alternative splicing.
conclusionsROS1 rearrangement/fusion detection in the clinical setting is complex and all methodologies have inherent limitations of which users must be aware to correctly interpret results.
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