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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Cancer 1/2018

Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation

Zeitschrift:
BMC Cancer > Ausgabe 1/2018
Autoren:
Gustavo S. Fernandes, Daniel M. Girardi, João Paulo G. Bernardes, Felipe P. Fonseca, Eduardo R. Fregnani

Abstract

Background

Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature.

Case presentation

We present a case of a 29-year-old woman diagnosed with an ameloblastoma of the left mandible who had been subjected to several surgical procedures over twenty years due to multiple local recurrences. Molecular testing revealed a BRAF V600E mutation, and vemurafenib was started. She experienced complete resolution of symptoms related to the disease, and image scans evidenced continuous shrinkage of the neoplastic lesion after eleven months of therapy.

Conclusion

This is the first report showing clinical benefit and radiological response with vemrafenib for recurrent ameloblastoma. Targeted therapy addressing BRAF V600E mutation has the potential to change clinical practice of this rare disease.
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