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Updated: Jun 23, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation
Gord Guo Zhu1,2, Chuanyong Lu1, Ivana Petrovic3
1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
Background:
Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS.
Methods:
In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing.
Result:
Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS.
Conclusion:
High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.
Insights
Genomic analysis of craniofacial osteosarcomas (CFOS) reveals complex alterations and mutations in key tumor suppressor genes like TP53. Actionable gene amplifications were found in nearly half of the cases studied.
Area of Science:
- Oncology
- Genomics
- Head and Neck Cancer Research
Background:
- Craniofacial osteosarcomas (CFOS) are rare head and neck cancers with distinct characteristics.
- Limited genetic data exists for CFOS compared to conventional osteosarcomas.
Purpose of the Study:
- To conduct comprehensive genomic profiling of high-grade CFOS.
- To identify genetic alterations and potential therapeutic targets in CFOS.
Main Methods:
- SNP array and targeted next-generation sequencing were employed.
- Analysis was performed on 15 cases of high-grade CFOS.
Main Results:
- High-grade CFOS exhibit complex and heterogeneous genomic alterations.
- Frequent mutations were observed in tumor suppressor genes TP53, CDKN2A/B, and PTEN.
- Actionable gene amplifications (e.g., CCNE1, MET, FGFR1) occurred in 43% of cases.
- GNAS hotspot mutations were identified, suggesting a role in CFOS development, particularly in malignant transformation from fibrous dysplasia.
Conclusions:
- High-grade CFOS are characterized by complex genomic alterations.
- Amplifications in receptor tyrosine kinase genes and mutations in tumor suppressor genes are common features.
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