Neurofibromatosis type I (NF1) is a heritable disease that may lead to the occurrence of primary central nervous system tumors, including gliomas. Treatment of NF1-associated diffuse gliomas is cumbersome due to the limited evidence and the risk of radio-induced secondary malignancies. Pediatric NF1-associated tumors are well-known to respond to MEK inhibition. However, the evidence in adults is extraordinarily limited, particularly for malignant gliomas. A 49-year-old with NF1 and diagnosed with a high-grade midline glioma affecting the right tectal, thalamic and subthalamic regions. Due to the high morbidity associated with the procedure, a tumor biopsy was not performed and treatment with the MEK inhibitor trametinib 2 mg per day was started with good tolerance and rapid and sustained radiological and neurological amelioration, lasting for 8 months, after which progressive disease occurred. Prospective efforts should be conducted to better characterize the natural history, molecular characteristics and MEK inhibitor treatment in adult patients with NF1-associated gliomas.
Cabezas-Camarero et al. (Wed,) studied this question.