Prolonged disease control with MEK inhibitor in neurofibromatosis type I-associated glioblastoma

WHAT IS KNOWN AND OBJECTIVE: Neurofibromatosis is associated with overactivation of the RAS-MAPK pathway. MEK inhibitors have been shown to be an effective treatment modality in other malignancies. CASE SUMMARY: We present a 24-year-old male with treatment-refractory neurofibromatosis-associated glioblastoma, who experienced clinical and radiological benefit from the MEK inhibitor, trametinib. WHAT IS NEW AND CONCLUSION: This case highlights the therapeutic success of a MEK inhibitor in neurofibromatosis-associated glioblastoma. As a corollary, this should prompt evaluation of MEK inhibitors in tumours associated with neurofibromatosis. It remains to be elucidated if tumours with somatic NF1 mutations may also benefit from therapy targeting the RAS-MAPK pathway.