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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Profiling of potential driver mutations in sarcomas by targeted next generation sequencing
Carola Andersson1, Henrik Fagman1, Magnus Hansson1
1Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.
Cancer Genetics
|March 19, 2016
Summary
Next-generation sequencing (NGS) can analyze limited sarcoma tissue for mutations, identifying potential drug targets. This study demonstrates NGS feasibility in diagnostics, offering insights into sarcoma development and potential therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Personalized oncology increasingly relies on genetic profiling via next-generation sequencing (NGS).
- Sarcomas have limited targeted treatments, and diagnostic biopsies yield scarce tissue for analysis.
- Targeted NGS offers a method to comprehensively characterize limited biopsy samples.
Purpose of the Study:
- To investigate recurrent or targetable aberrations in cancer driver genes in sarcomas using low-input DNA.
- To assess the feasibility of targeted NGS for comprehensive characterization of scarce formalin-fixed paraffin-embedded (FFPE) sarcoma biopsies.
- To identify potential druggable targets and understand mesenchymal cell signaling in sarcomas.
Main Methods:
- Targeted NGS panel sequencing of 207 mutation hotspots in 50 cancer-associated genes.
- Analysis of DNA from 55 clinically characterized sarcomas (GIST, synovial, myxoid liposarcoma, Ewing, Ewing-like).
- High sequencing depth to detect subclonal and low-frequency mutations in FFPE tissues.
Main Results:
- Identified nine mutations in eight potential driver genes across different sarcoma types.
- Found potentially actionable mutations for targeted therapies.
- Demonstrated the feasibility of targeted NGS with very limited FFPE tissue for diagnostic purposes.
- Detected five non-synonymous variants in four cancer driver genes in normal patient tissue, suggesting potential predisposition.
Conclusions:
- Targeted NGS is feasible for comprehensive genetic profiling of scarce FFPE sarcoma biopsies.
- The study identified potentially druggable targets and provided insights into sarcoma development.
- NGS may enhance personalized treatment strategies for sarcomas.
