ArticleThe Journal of molecular diagnostics : JMD2019
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.
Article in The Journal of molecular diagnostics : JMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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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
36 citing papers in PubMed, 55 citations in OpenAlex.
- Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.Blood advances · 2022Trial
- Matched Targeted Therapy for Pediatric Patients with Relapsed, Refractory, or High-Risk Leukemias: A Report from the LEAP Consortium.Cancer discovery · 2021Trial
- Review
- Long-Read Transcriptome Sequencing and Functional Validation Reveals Novel and Oncogenic Gene Fusions in Fusion Panel-Negative Gliomas.bioRxiv : the preprint server for biology · 2026Article
- The GF-NEO discovery platform unveils a [KQE][DG] sequence motif within fusion neoantigens in pediatric cancer.iScience · 2026Article
- Molecular Characterization of a ComplexJCO precision oncology · 2026Article
- Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.HemaSphere · 2025Article
- Combining panel-based and whole-transcriptome-based gene fusion detection by long-read sequencing.Cell reports methods · 2025Article
- Integrated genomic analysis to reduce chromosomal analysis for the diagnosis of pediatric hematologic malignancies: addressing the shortage of cytogenetic technologists.Haematologica · 2025Article
- Development and application of a whole transcriptome sequencing assay for the detection of gene fusions in clinical cancer specimens.BMC cancer · 2025Article
- Azacytidine Monotherapy in an Infant With Mosaic NRAS-Driven Juvenile Myelomonocytic Leukemia.Pediatric blood & cancer · 2025Article
- Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronlyHaematologica · 2024Article
- Low-invasive somatic oncogenes and lymph node metastasis in pediatric papillary thyroid cancer: implications for prophylactic central neck dissection.European thyroid journal · 2024Article
- Thyroid Ultrasound Screening in Childhood Cancer Survivors following Radiotherapy.Hormone research in paediatrics · 2024Article
- Rapid gene fusion testing using the NanoString nCounter platform to improve pediatric leukemia diagnoses in Sub-Saharan Africa.Frontiers in oncology · 2024Article
- Outcomes of ATA Low-Risk Pediatric Thyroid Cancer Patients Not Treated With Radioactive Iodine Therapy.The Journal of clinical endocrinology and metabolism · 2023Article
- A novel ARIH1::BRAF fusion in a glioma.Journal of neuropathology and experimental neurology · 2023Article
- Article
- ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4.Journal of neuropathology and experimental neurology · 2023Article
- First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma.Journal of neuropathology and experimental neurology · 2023Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
Gene fusions are one of the most common genomic alterations in pediatric cancer. Many fusions encode oncogenic drivers and play important roles in cancer diagnosis, risk stratification, and treatment selection. We report the development and clinical validation of a large custom-designed RNA sequencing panel, CHOP Fusion panel, using anchored multiplex PCR technology. The panel interrogates 106 cancer genes known to be involved in nearly 600 different fusions reported in hematological malignancies and solid tumors. The panel works well with different types of samples, including formalin-fixed, paraffin-embedded samples. The panel demonstrated excellent analytic accuracy, with 100% sensitivity and specificity on 60 pediatric tumor validation samples. In addition to identifying all known fusions in the validation samples, three unrecognized, yet clinically significant, fusions were also detected. A total of 276 clinical cases were analyzed after the validation, and 51 different fusions were identified in 104 cases. Of these fusions, 16 were not previously reported at the time of discovery. These fusions provided genomic information useful for clinical management. Our experience demonstrates that CHOP Fusion panel can detect the vast majority of known and certain novel clinically relevant fusion genes in pediatric cancers accurately, efficiently, and cost-effectively; and the panel provides an excellent tool for new fusion gene discovery.
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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.