Department of Neurosurgery, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-Koshigaya, Koshigaya-shi, Saitama 343-8555, Japan.
Department of Neurosurgery, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-Koshigaya, Koshigaya-shi, Saitama 343-8555, Japan.
J Clin Neurosci. 2019 Aug;66:196-201. doi: 10.1016/j.jocn.2019.05.014. Epub 2019 May 27.
Alterations in the BRAF gene have been reported to play a key role in the tumorigenesis of various tumors. Recent studies have shown the existence of BRAF alterations in ganglioglioma (GG), pilocytic astrocytoma (PA), pleomorphic xanthoastrocytomas (PXA), and epithelioid glioblastoma (eGBM). The focus of this review was the association between the clinical characteristics and BRAF status in these glial and glioneuronal tumors. The BRAF abnormalities, KIAA1549-BRAF fusion and BRAF mutation, were detected in approximately 50% of the analyzed tumors regardless of the tumor location, and there were site-specific BRAF abnormalities that became more remarkable on analysis by each tumor subtype. The median age of patients with KIAA1549-BRAF fusion was much lesser than that of those with BRAF mutations. Histological analysis indicates that the existence of KIAA1549-BRAF fusion is related to pilocytic morphology. The review of imaging features indicated that cyst formation is associated with the existence of KIAA1549-BRAF fusion in PA and GG and the lack of BRAF mutation in GG. Hemorrhage was significantly present in cases of GG with KIAA1549-BRAF fusion, but no relevance was shown in cases with BRAF mutations. No significant relevance was detected between the presence of calcification and BRAF alterations. Our clinical and genetic review of BRAF-related tumors indicated that the KIAA1549-BRAF fusion was strongly associated with PA, but not with other glial and glioneuronal tumors.
BRAF 基因的改变已被报道在各种肿瘤的肿瘤发生中起关键作用。最近的研究表明，神经节胶质瘤（GG）、毛细胞星形细胞瘤（PA）、多形性黄色星形细胞瘤（PXA）和上皮样胶质母细胞瘤（eGBM）中存在 BRAF 改变。本综述的重点是这些神经胶质瘤和神经胶质神经元肿瘤的临床特征与 BRAF 状态之间的关联。无论肿瘤位置如何，约 50%的分析肿瘤中均检测到 BRAF 异常、KIAA1549-BRAF 融合和 BRAF 突变，并且存在特定部位的 BRAF 异常，通过每种肿瘤亚型的分析变得更加明显。KIAA1549-BRAF 融合患者的中位年龄明显小于 BRAF 突变患者。组织学分析表明，KIAA1549-BRAF 融合的存在与毛细胞形态有关。对影像学特征的回顾表明，在 PA 和 GG 中，囊形成与 KIAA1549-BRAF 融合的存在以及 GG 中 BRAF 突变的缺乏有关，而在 GG 中，出血与 KIAA1549-BRAF 融合显著相关，但与 BRAF 突变无关。钙化的存在与 BRAF 改变之间未发现显著相关性。我们对 BRAF 相关肿瘤的临床和遗传学回顾表明，KIAA1549-BRAF 融合与 PA 密切相关，但与其他神经胶质瘤和神经胶质神经元肿瘤无关。
