RESUMEN
WHAT IS KNOWN AND OBJECTIVE: The BRAF-V600E genetic mutation offers a potential targeted therapy for the treatment of papillary craniopharyngiomas. CASE SUMMARY: A 35-year-old man underwent a craniotomy and subtotal resection of a large BRAF-V600E-positive papillary craniopharyngioma before referral to our institution. Our treatment included the BRAF-V600 inhibitor dabrafenib mesylate (75 mg, twice/day) and trametinib dimethyl sulfoxide (2 mg/day). The residual tumour decreased in size by 95% over 21 months without negative side effects. WHAT IS NEW AND CONCLUSION: We reviewed the literature on BRAF-V600E inhibition as a non-invasive method of treating papillary craniopharyngiomas harbouring the BRAF-V600E mutation.
Asunto(s)
Craneofaringioma , Neoplasias Hipofisarias , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Craneofaringioma/tratamiento farmacológico , Craneofaringioma/genética , Craneofaringioma/patología , Humanos , Masculino , Mutación , Oximas/uso terapéutico , Neoplasias Hipofisarias/tratamiento farmacológico , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/cirugía , Inhibidores de Proteínas Quinasas/uso terapéutico , Proteínas Proto-Oncogénicas B-raf/genética , Piridonas/uso terapéutico , Pirimidinonas/uso terapéuticoRESUMEN
INTRODUCTION: Ring chromosome 22 (r[22]) can lead to the development of intracranial tumors such as meningiomas, neurofibromas, and schwannomas similar to neurofibromatosis 2 (NF2). CASE PRESENTATION: An 18-year-old female with r(22) and a history of global development delay and cognitive impairment presented with sudden hearing loss. MRI revealed bilateral vestibular schwannomas. Given documented audiologic decline in the patient's hearing, the larger tumor was treated with CyberKnife fractionated stereotactic radiosurgery, and the smaller tumor is being monitored. CONCLUSION: This case provides further evidence that patients with r(22) can develop clinical features of NF2, including the development of bilateral vestibular schwannomas, and should be monitored for hearing disturbances starting in puberty as a warning sign for these tumors.