Related Experiment Video
Updated: Nov 7, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas
Antonio Juan Ribelles1, Pablo Gargallo2, Pablo Berlanga3
1Paediatric Oncology and Hematology Unit, Hospital U I P La Fe, Av. Fernando Abril Martorell, 106, 46026 Valencia, Spain.
Insights
Next-generation sequencing (NGS) identified actionable genomic alterations in 31% of pediatric sarcomas. Targeted therapy based on these findings demonstrated clinical benefit, particularly in relapsed cases.
Area of Science:
- Oncology
- Genomics
- Pediatric Medicine
Background:
- Bone and soft-tissue sarcomas account for 13% of childhood cancers.
- Next-generation sequencing (NGS) is emerging in clinical applications for pediatric malignancies.
- This study details results from a precision medicine program for pediatric sarcomas.
Purpose of the Study:
- To evaluate the utility of next-generation sequencing (NGS) in identifying actionable genomic alterations in pediatric sarcomas.
- To assess the feasibility and clinical benefit of targeted therapies guided by NGS results in children with sarcomas.
- To characterize the genomic landscape of pediatric sarcomas.
Main Methods:
- Histopathological analysis, RT-PCR, and NGS using a consensus gene panel were performed on 70 pediatric sarcoma samples.
- Pathogenic alterations were identified and correlated with clinical data.
- Actionable variants were used to guide targeted treatment recommendations.
Main Results:
- Of 70 pediatric sarcoma patients, 22 (31%) had at least one pathogenic alteration detected by NGS.
- Thirty pathogenic mutations in 18 genes, including TP53, FGFR4, and CTNNB1, were identified.
- Six patients received targeted therapy for 18 actionable variants, achieving a 78% disease control rate.
Conclusions:
- Pediatric sarcomas exhibit a distinct genomic profile compared to adult sarcomas.
- Integrating NGS into pediatric sarcoma treatment is feasible and offers personalized therapeutic options.
- Targeted therapies guided by NGS can provide clinical benefits, especially for patients with relapsed disease.
Abstract:
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas from 10 centres were studied. Median age was 11.5 years (range 1-18). Twenty-two (31%) had at least one pathogenic alteration by NGS. Thirty pathogenic mutations in 18 different genes were detected amongst the 22 patients. The most frequent alterations were found in TP53, followed by FGFR4 and CTNNB1. Combining all biological studies, 18 actionable variants were detected and six patients received targeted treatment observing a disease control rate of 78%. Extrapolating the results to the whole cohort, 23% of the patients would obtain clinical benefit from this approach. Conclusions: Paediatric sarcomas have a different genomic landscape when compared to adult cohorts. Incorporating NGS targets into paediatric sarcomas' therapy is feasible and allows personalized treatments with clinical benefit in the relapse setting.
More Related Videos
07:59Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
