RESUMEN
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.
Asunto(s)
Ameloblastoma/tratamiento farmacológico , Ameloblastoma/genética , Neoplasias Maxilomandibulares/tratamiento farmacológico , Neoplasias Maxilomandibulares/genética , Mutación , Inhibidores de Proteínas Quinasas/uso terapéutico , Proteínas Proto-Oncogénicas B-raf/genética , Adulto , Alelos , Ameloblastoma/diagnóstico , Sustitución de Aminoácidos , Biomarcadores de Tumor , Biopsia , Femenino , Humanos , Inmunohistoquímica , Neoplasias Maxilomandibulares/diagnóstico , Imagen por Resonancia Magnética , Terapia Molecular Dirigida , Inhibidores de Proteínas Quinasas/administración & dosificación , Inhibidores de Proteínas Quinasas/efectos adversos , Resultado del TratamientoRESUMEN
We present a case of a patient with hypersplenism secondary to portal hypertension due to hepato-splenic schistosomiasis, which was accompanied by severe and refractory thrombocytopenia. We performed spleen ablation and measured the total spleen and ablated volumes with contrast-enhanced computed tomography and volumetry. No major complications occurred, thrombocytopenia was resolved, and platelet levels remained stable, which allowed for early treatment of the patient's underlying disease. Previous work has shown that splenic radiofrequency ablation is an attractive alternative treatment for hypersplenism induced by liver cirrhosis. We aimed to contribute to the currently sparse literature evaluating the role of radiofrequency ablation (RFA) in the management of hypersplenism. We conclude that splenic RFA appears to be a viable and promising option for the treatment of hypersplenism.