Brainstem glioblastoma in a neurofibromatosis type 1 patient: A rare but aggressive presentation.
This report describes an adolescent male with NF1 who developed a histopathologically confirmed IDH-wild-type glioblastoma in the cerebello-medullary brainstem region after presenting with nonspecific neurologic symptoms.
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This report describes an adolescent male with NF1 who developed a histopathologically confirmed IDH-wild-type glioblastoma in the cerebello-medullary brainstem region after presenting with nonspecific neurologic symptoms.
Research significance
The case supports heightened diagnostic consideration of high-grade glioma in NF1 patients with suspicious brainstem lesions; any hypothesis that earlier recognition or NF1-directed biology could improve treatment selection or outcomes remains untested by the supplied record.
Source abstract
Glioblastoma multiforme is a highly aggressive central nervous system tumor, rarely seen in the infratentorial region, particularly in patients with Neurofibromatosis Type 1 (NF1). While NF1 is more commonly associated with low-grade gliomas, the development of high-grade gliomas such as glioblastoma remains uncommon and poses diagnostic and therapeutic challenges. We report a rare case of brainstem glioblastoma IDH-wild type in an adolescent with NF1, initially presenting with nonspecific neurological symptoms. Imaging revealed a lesion in the cerebello-medullary region, and histopathology confirmed glioblastoma IDH-wild type. This case underscores the importance of maintaining a high index of suspicion for malignant transformation in NF1-related central nervous system lesions. Given the rarity and aggressive nature of brainstem glioblastoma IDH-wild type in NF1, timely diagnosis, multidisciplinary management, and vigilant follow-up are essential for optimizing outcomes in this high-risk patient group.