Precision medicine: Sustained response to erdafitinib in FGFR2-mutant, multiply recurrent ameloblastoma
Katherine A Lawson-Michod1,2, Christopher H Le3, Ghassan Tranesh4
1UA Health Sciences, University of Arizona (UA) Cancer Center, Tucson, Arizona, USA.
Background:
Ameloblastoma imposes significant morbidity and high-recurrence rates following surgery and radiation therapy. Although 89% of cases harbor oncogenic mutations, the role of targeted therapy is undefined.
Case:
We describe a case of a 40-year-old male with multiply recurrent, locally invasive ameloblastoma of the posterior maxillary ridge. The tumor was unresectable for negative margins due to extensive intracranial disease, and the patient suffered severe symptoms including pain. Immune and genomic profiling were obtained to guide systemic treatment, showing a PD-L1 score of 2% and FGFR2V395D and SMOW535L mutations. The patient progressed rapidly on anti-PD1 immunotherapy. He was treated with the FGFR inhibitor, erdafitinib, with excellent partial response including resolution of intracranial disease and cancer-related pain, ongoing 2 years after drug initiation.
Conclusion:
Targeting the FGFR2 mutation resulted in sustained response and improved quality of life. Genomic profiling with targeted therapy for ameloblastoma appears promising, especially when surgery is technically infeasible.
Insights
Targeting specific gene mutations in ameloblastoma, a rare jaw cancer, with FGFR inhibitors shows promise. This targeted therapy offers a new treatment option for recurrent ameloblastoma, especially when surgery is not feasible.
Area of Science:
- Oncology
- Genomics
- Pharmacology
Background:
- Ameloblastoma is an aggressive odontogenic tumor with high recurrence rates.
- Standard treatments like surgery and radiation often lead to significant morbidity.
- The potential of targeted therapies remains largely unexplored despite frequent oncogenic mutations.
Observation:
- A case of multiply recurrent, locally invasive ameloblastoma in a 40-year-old male with intracranial extension is presented.
- Genomic profiling revealed FGFR2 and SMO mutations.
- The patient showed rapid progression on anti-PD1 immunotherapy.
Findings:
- Treatment with the FGFR inhibitor erdafitinib led to an excellent partial response, including resolution of intracranial disease and pain.
- The patient has maintained this response for over 2 years.
- Targeting the FGFR2 mutation demonstrated a sustained therapeutic effect.
Implications:
- Genomic profiling and targeted therapy represent a promising approach for ameloblastoma management.
- This strategy is particularly valuable in cases where surgical resection is not feasible.
- Targeted therapy can significantly improve patient quality of life.
