TY - JOUR
T1 - Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations
AU - Shibahara, Ichiyo
AU - Sonoda, Yukihiko
AU - Suzuki, Hiroyoshi
AU - Mayama, Akifumi
AU - Kanamori, Masayuki
AU - Saito, Ryuta
AU - Suzuki, Yasuhiro
AU - Mashiyama, Shoji
AU - Uenohara, Hiroshi
AU - Watanabe, Mika
AU - Kumabe, Toshihiro
AU - Tominaga, Teiji
N1 - Funding Information:
We retrospectively reviewed NF1-glioblastoma patients treated at Tohoku University, Department of Neurosurgery, Sendai Medical Center, Department of Neurosurgery, and branch hospitals. A diagnosis of NF1 was made according to the criteria established by the National Institutes of Health Consensus Development Conference [2].
Publisher Copyright:
© 2017, The Japan Society of Brain Tumor Pathology.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - BRAF
KW - Epithelioid glioblastoma
KW - Glioblastoma
KW - NF1
KW - Pleomorphic xanthoastrocytoma
KW - TERT
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U2 - 10.1007/s10014-017-0302-z
DO - 10.1007/s10014-017-0302-z
M3 - Article
C2 - 29138945
AN - SCOPUS:85033713148
SN - 1433-7398
VL - 35
SP - 10
EP - 18
JO - Brain Tumor Pathology
JF - Brain Tumor Pathology
IS - 1
ER -
