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.

Pathogenesis of peritumoral hyperexcitability in an immunocompetent CRISPR-based glioblastoma model

“…In brief, this model relies on IUE of gRNA-expressing vectors that target neural stem cells into the cerebral ventricles of mouse fetuses on E16.5. Using these vectors, we deleted 3 genes encoding phosphatase and tensin homolog (Pten), neurofibromin 1 (Nf1), and p53 (Trp53) linked to tumorigenesis in human GBM (23)(24)(25), and expressed reporter constructs encoding GFP or red fluorescent protein (RFP, for in vivo imaging) and the endonuclease Cas9. As we previously reported (8), these animals develop reproducible GFP-or RFP-positive malignant glial tumors, display spontaneous behavioral seizures, and show an average survival time of 3 months on C57BL6/J and CD-1 inbred backgrounds.…”

Glioblastoma in adults with neurofibromatosis type I: A report of two cases

“…For example, in astrocytomas, the occurrence of NF1 mutation alone is supposed to result in low‐grade pilocytic astrocytomas, while co‐occurrence of TP53 mutation leads to development of more aggressive tumors, such as MPNSTs and glioblastomas . In view of this, the pattern of occurrence of somatic mutations in IDH1/2 , ATRX , telomerase reverse transcriptase (TERT) , BRAF and TP53 in glioblastomas with somatic NF1 mutations in The Cancer Genome Atlas (TCGA; http://cancergenome.nih.gov) glioblastoma data (TCGA, Cell 2013) available at cBioportal was assessed (Fig. B).…”

Cerebellar glioblastoma multiforme in an adult patient with neurofibromatosis type 1: an extremely rare report with review of literature

“…The patient was treated with surgical removal of the tumor and adjuvant chemoradiation. He had no remarkable symptoms and tumor recurrence up to 9 months post-operation follow-up [23]. In another article, a 9-year-old NF1 patient was reported who died of GBM 3 days following initial diagnosis, warning physicians to follow tumors in NF1 patients closely [24].…”