Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan.
Department of Neurosurgery, National Hospital Organization Sendai Medical Center, Sendai, Japan.
Brain Tumor Pathol. 2018 Jan;35(1):10-18. doi: 10.1007/s10014-017-0302-z. Epub 2017 Nov 14.
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.
在神经纤维瘤病 1 型（NF1）患者中，毛细胞型星形细胞瘤和低级别胶质瘤比胶质母细胞瘤更为常见。最近的全基因组分析显示，胶质母细胞瘤的间质亚型中存在频繁的 NF1 基因突变；然而，关于 NF1 患者的胶质母细胞瘤（NF1 胶质母细胞瘤）的临床病理特征知之甚少。我们分析了 4 例 NF1 胶质母细胞瘤。影像学和术中发现显示肿瘤与周围大脑分界清楚。病理分析显示，具有嗜酸性细胞质、奇异核、黄瘤样外观、多核巨细胞和组织细胞样外观的细胞突起很少。在随访期间，1 例患者在 49 个月时死亡，其他患者分别存活 60、87 和 106 个月；因此，NF1 胶质母细胞瘤患者的生存情况相对较好。没有一例 NF1 胶质母细胞瘤存在异柠檬酸脱氢酶 1（IDH1）基因突变、v-RAF 鼠肉瘤病毒癌基因同源物 B1（BRAF）基因突变和端粒酶逆转录酶（TERT）基因启动子突变。我们确定 NF1 胶质母细胞瘤是胶质母细胞瘤的一个独特亚型。
