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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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.

Journal of Personalized Medicine

|April 30, 2021

Summary

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.

Keywords:

clinical translation next-generation sequencing paediatric sarcomas precision medicine targeted drugs

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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.