Glioblastoma in a patient with neurofibromatosis type 1: a case report and review of the literature

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with NF1. There have only been a handful of cases in which adult glioblastoma presented with NF1. A 32-year-old male presented with headache and radiological studies showing a high grade intra-axial tumor. The patient underwent gross total surgical excision and the pathology revealed glioblastoma. After the surgery, he received concomitant chemo-radiotherapy with temozolomide and adjuvant temozolomide chemotherapy. We report a NF1 patient who developed glioblastoma and reviewed related articles.

Keywords: CCRT; Glioblastoma; Neurofibromatosis type 1; Temozolomide.

Fig. 1

Preoperative magnetic resonance imaging (MRI) reveals large mass in the frontal lobe cross the midline and compress both frontal horns of ventricle. A: T1-weighted image shows large tumor with peripheral cyst component. B: Gd-contrast enhanced MRI shows well enhancement. C: Apparent diffusion coefficient maps demonstrates iso or slight low signal intensity.

Fig. 2

Histologic examination. A: H&E stain (×100) shows characteristic features of glioblastoma. B: Scalp mass is revealed plexiform neurofibroma (H&E stain, ×200).

Fig. 3

Post-adjuvant chemotherapy with temozolomide, 9 months after surgery. Gd-enhanced axial (A) and coronal (B) T1-weighted MR images reveal no evidence of tumor recurrence.