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Genomic profiling and precision medicine in complex ameloblastoma
James C Gates1, Allison P Clark2, Elliot Cherkas3
1Department of Oral and Maxillofacial Surgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA.
Background:
Ameloblastoma may present a significant treatment challenge in the locally advanced, recurrent and metastatic setting. Comprehensive genomic profiling (CGP) can identify targetable genomic alterations to aid in treatment.
Methods:
Ameloblastoma samples were sequenced using hybrid-capture based sequencing. A systematic literature review was performed to examine outcomes in studies employing targeted treatment in ameloblastoma.
Results:
We reviewed 14 cases of Ameloblastoma using CGP. There were six patients with activating BRAF mutations, five with PIK3CA, five with SMO, four with FGFR2, one with EGFR, and one with ROS1. All cases were MSI stable and the median TMB was 2.5 mutations/Mb. A separate literature review of clinical outcomes in ameloblastoma showed a predominance of at least partial response to targeted treatment (7/12 cases).
Conclusion:
CGP is helpful in identifying specific driver mutations in patients with complex ameloblastoma. Targeted treatment has been employed with success in achieving treatment response.
Insights
Comprehensive genomic profiling (CGP) helps identify targetable mutations in ameloblastoma. Targeted treatments show promise, with a majority of patients experiencing positive responses, offering new hope for complex cases.
Area of Science:
- Oncology
- Genomics
- Oral and Maxillofacial Surgery
Background:
- Ameloblastoma poses significant treatment challenges, particularly in advanced, recurrent, or metastatic stages.
- Identifying targetable genomic alterations is crucial for effective therapeutic strategies.
Conclusions:
- Comprehensive genomic profiling is effective in detecting specific driver mutations in complex ameloblastoma cases.
- Targeted therapies have demonstrated success in achieving treatment responses for ameloblastoma.
