ArticleMolecular therapy : the journal of the American Society of Gene Therapy2019
Discovery of New Fusion Transcripts in a Cohort of Pediatric Solid Cancers at Relapse and Relevance for Personalized Medicine.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2019. 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, 37 citations in OpenAlex.
- AtFusionDB: A Comprehensive Database of Fusion Transcripts in Model Plant Arabidopsis thaliana.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Molecular and expression analyses indicate the role of fusion transcripts in mediating abiotic stress responses in chickpea.Frontiers in plant science · 2025Article
- The landscape of fusion transcripts in plants: a new insight into genome complexity.BMC plant biology · 2024Article
- A benchmarking framework for the accurate and cost-effective detection of clinically-relevant structural variants for cancer target identification and diagnosis.Journal of translational medicine · 2024Article
- Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.BMC cancer · 2023Article
- Longitudinal characterization of primary osteosarcoma and derived subcutaneous and orthotopic relapsed patient-derived xenograft models.Frontiers in oncology · 2023Article
- Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and commonFrontiers in immunology · 2023Article
- Article
- RNA-Seq for the detection of gene fusions in solid tumors: development and validation of the JAX FusionSeq™ 2.0 assay.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Larotrectinib Response in NTRK3 Fusion-Driven Diffuse High-Grade Glioma.Pharmacology · 2022Article
- Druggable genome in attention deficit/hyperactivity disorder and its co-morbid conditions. New avenues for treatment.Molecular psychiatry · 2021Article
- Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology.NPJ precision oncology · 2021Review
- Transcriptome Analysis Reveals MFGE8-HAPLN3 Fusion as a Novel Biomarker in Triple-Negative Breast Cancer.Frontiers in oncology · 2021Article
- Fusion Oncoproteins in Childhood Cancers: Potential Role in Targeted Therapy.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2021Review
- Newly identified LMO3-BORCS5 fusion oncogene in Ewing sarcoma at relapse is a driver of tumor progression.Oncogene · 2019Article
- Protein kinase C fusion proteins are paradoxically loss of function in cancer.The Journal of biological chemistryArticle
- Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.Cancer genomics & proteomicsReview
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We hypothetized that pediatric cancers would more likely harbor fusion transcripts. To dissect the complexity of the fusions landscape in recurrent solid pediatric cancers, we conducted a study on 48 patients with different relapsing or resistant malignancies. By analyzing RNA sequencing data with a new in-house pipeline for fusions detection named ChimComp, followed by verification by real-time PCR, we identified and classified the most confident fusion transcripts (FTs) according to their potential biological function and druggability. The majority of FTs were predicted to affect key cancer pathways and described to be involved in oncogenesis. Contrary to previous descriptions, we found no significant correlation between the number of fusions and mutations, emphasizing the particularity to study pre-treated pediatric patients. A considerable proportion of FTs containing tumor suppressor genes was detected, reflecting their importance in pediatric cancers. FTs containing non-receptor tyrosine kinases occurred at low incidence and predominantly in brain tumors. Remarkably, more than 30% of patients presented a potentially druggable high-confidence fusion. In conclusion, we detected new oncogenic FTs in relapsing pediatric cancer patients by establishing a robust pipeline that can be applied to other malignancies, to detect and prioritize experimental validation studies leading to the development of new therapeutic options.
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