Clinicopathological, Radiological, and Genetic Analyses of Cerebellar Gangliogliomas with Long-Term Survival.
Clinicopathological, Radiological, and Genetic Analyses of Cerebellar Gangliogliomas with Long-Term Survival.
复制标题
小脑神经节胶质瘤的长期生存的临床病理学、放射学和遗传分析。
DOI：
10.1016/j.wneu.2016.07.051
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发表时间：
2016
影响因子：
2
通讯作者：
Susumu Miyamoto.
中科院分区：
文献类型：
--
作者：
7.Bin Liu;Yoshiki Arakawa;Daiki Murata;Yohei Mineharu;Ryuta Yokogawa;Masahiro Tanji;Ko-ichi Fujimoto;Nobuyuki Fukui;Yukinori Terada;Susumu Miyamoto.
小脑神经节细胞胶质瘤的影像学表现和临床表现与幕上不同，但其分子基础和最佳治疗仍有待阐明。我们报告3例儿童小脑神经节细胞胶质瘤和长期生存，侧重于临床病理学和放射学表现和遗传analysis.Patients和MethodsWe回顾性分析了3例儿童小脑神经节细胞胶质瘤治疗在我院2000年和2010年之间。免疫组化法检测KI-67、胶质细胞酸性蛋白、突触素、BRAFV 600 E和IDH-1 R132 H突变蛋白的表达。标准桑格测序用于确认BRAF、IDH-1/2和组蛋白H3.3突变。甲基化特异性聚合酶链反应被用来评估MGMT启动子methylation.ResultsIn所有的情况下，磁共振成像显示在小脑脚和半球的浸润性肿瘤。所有3名儿童均存活（>12年生存期），治疗后其残留肿瘤已稳定超过5年。其肿瘤表现出明显的神经节细胞胶质瘤特征，Ki-67指数低（2%-4%），BRAFV 600 E突变阳性，而IDH 1/2突变阴性。MGMT启动子甲基化在所有them.ConclusionsOur研究表明，所有3名儿童实现了长期生存与残留肿瘤。这些肿瘤可能表明儿童小脑神经节细胞胶质瘤的良性预后，无论浸润性表现和BRAF突变的存在。
ObjectiveCerebellar gangliogliomas show different image findings and clinical behaviors from the supratentorial; however, their molecular basis and optimal managements remain to be elucidated. We report 3 children with cerebellar ganglioglioma and long-term survival, focusing on clinicopathological and radiological findings and genetic analyses.Patients and MethodsWe retrospectively analyzed 3 children with cerebellar ganglioglioma treated in our institute between 2000 and 2010. Immunohistochemical examinations were performed to determine the expression of KI-67, glial fibrillary acidic protein, synaptophysin,BRAFV600Eand IDH-1 R132H mutated proteins. Standard Sanger sequencing was used to confirm BRAF, IDH-1/2, and Histone H3.3 mutations. Methylation-specific polymerase chain reaction was used to evaluate MGMT promoter methylation.ResultsIn all cases, magnetic resonance imaging demonstrated an infiltrative tumor in cerebellar peduncle and hemisphere. All 3 children are alive (>12 years survival), and their residual tumors have been stable for more than 5 years after the treatments. Their tumors showed distinctive features of ganglioglioma with low Ki-67 index (2%–4%), positive for theBRAFV600Emutation, but negative for IDH1/2 mutations. The MGMT promoter methylation was observed in all of them.ConclusionsOur study showed that all 3 children achieved long-term survival with residual tumors. These tumors might indicate a benign prognosis of pediatric cerebellar gangliogliomas, regardless of the infiltrating manifestation and the presence of BRAF mutation.