Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations

• Published in: Brain tumor pathology Vol. 35; no. 1; pp. 10 - 18
• Main Authors: Shibahara, Ichiyo, Sonoda, Yukihiko, Suzuki, Hiroyoshi, Mayama, Akifumi, Kanamori, Masayuki, Saito, Ryuta, Suzuki, Yasuhiro, Mashiyama, Shoji, Uenohara, Hiroshi, Watanabe, Mika, Kumabe, Toshihiro, Tominaga, Teiji
• Format: Journal Article
• Language: English
• Published: Singapore Springer Singapore 01-01-2018; Springer Nature B.V
• Subjects: Adult; Antigens; Biopsy; Brain cancer; Brain Neoplasms - complications; Brain Neoplasms - diagnostic imaging; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Cancer Research; Chemotherapy; Cloning; Genetic disorders; Genome-Wide Association Study; Glioblastoma - complications; Glioblastoma - diagnostic imaging; Glioblastoma - genetics; Glioblastoma - pathology; Humans; Isocitrate Dehydrogenase - genetics; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnostic imaging; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromin 1 - genetics; Neurological disorders; Neurology; Neurosurgery; Oncology; Original Article; Pathology; Promoter Regions, Genetic - genetics; Proto-Oncogene Proteins B-raf - genetics; Radiation therapy; Retrospective Studies; Spectrum analysis; Surgery; Telomerase - genetics; Tumors; Denmark; United States > US; Japan; NF1; Epithelioid glioblastoma; BRAF; TERT; Glioblastoma; Pleomorphic xanthoastrocytoma
• ISSN: 1433-7398; 1861-387X
• DOI: 10.1007/s10014-017-0302-z

Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent
NF1
gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like appearance, multinucleated giant cells, and histiocytoid appearance. During the follow-up period, one patient died at 49 months and others remained alive for 60, 87, and 106 months; thus, patients with NF1 glioblastoma presented a relatively favorable survival. None of the NF1 glioblastomas harbored isocitrate dehydrogenase 1 (IDH1) gene mutation, v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and telomerase reverse transcriptase (TERT) gene promoter mutation. We identified that NF1 glioblastoma is a unique subset of glioblastoma.