KEY TAKEAWAYS
- The study aimed to conduct comprehensive genomic analysis of high-grade CFOS using SNP array and targeted NGS.
- The results showed that the high-grade CFOS exhibit complex genomic alterations, featuring RTK gene amplifications and frequent tumor suppressor mutations.
Craniofacial osteosarcomas (CFOS) are rare malignant neoplasms in head and neck cancers, exhibiting distinct clinical, biological, and prognostic differences from conventional long bone osteosarcomas. Genetic data on CFOS are sparse.
Gord Guo Zhu and the team aimed to conduct comprehensive genomic analysis of 15 high-grade CFOS cases using SNP array and targeted next-generation sequencing (NGS).
The results revealed that high-grade CFOS exhibit complex and heterogeneous genomic alterations, frequently involving tumor suppressor genes TP53, CDKN2A/B, and PTEN, akin to conventional osteosarcomas. Additionally, actionable gene amplifications in CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were identified in 43% of cases.
GNAS hotspot activating mutations were also found in some CFOS cases, including one showing malignant transformation from fibrous dysplasia, implicating GNAS mutation in CFOS development.
The study concluded that high-grade CFOS exhibit complex and heterogeneous genomic alterations, including amplifications of receptor tyrosine kinase genes and frequent mutations in tumor suppressor genes.
Funding was provided National Institutes of Health/National Cancer Institute Cancer Center.
Source: https://pubmed.ncbi.nlm.nih.gov/38884816/
Zhu GG, Lu C, Petrovic I, et al. (2024). “DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.” Head Neck Pathol. 2024 Jun 17;18(1):48. doi: 10.1007/s12105-024-01634-5. PMID: 38884816; PMCID: PMC11183031.
