顶盖胶质瘤:临床、放射学及病理学特征,以及分子分析的重要性
Tectal glioma: clinical, radiological, and pathological features, and the importance of molecular analysis.
作者信息
Imoto Ryoji, Otani Yoshihiro, Fujii Kentaro, Ishida Joji, Hirano Shuichiro, Kemmotsu Naoya, Suruga Yasuki, Mizuta Ryo, Kegoya Yasuhito, Inoue Yohei, Umeda Tsuyoshi, Hokama Madoka, Washio Kana, Yanai Hiroyuki, Tanaka Shota, Satomi Kaishi, Ichimura Koichi, Date Isao
机构信息
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.
Department of Brain Disease Translational Research, Juntendo University Graduate School of Medicine, 2-1-1 Hongou, Bunkyou-ku, Tokyo, 113-8421, Japan.
出版信息
Brain Tumor Pathol. 2025 Jan;42(1):1-11. doi: 10.1007/s10014-024-00494-9. Epub 2024 Oct 21.
Tectal glioma (TG) is a rare lower grade glioma (LrGG) that occurs in the tectum, mainly affecting children. TG shares pathological similarities with pilocytic astrocytoma (PA), but recent genetic analyses have revealed distinct features, such as alterations in KRAS and BRAF. We conducted a retrospective review of cases clinically diagnosed as TG and treated at our institute between January 2005 and March 2023. Six cases were identified and the median age was 30.5 years. Four patients underwent biopsy and two patients underwent tumor resection. Histological diagnoses included three cases of PA, one case of astrocytoma, and two cases of high-grade glioma. The integrated diagnosis, according to the fifth edition of the World Health Organization Classification of Tumours of the central nervous system, included two cases of PA and one case each of diffuse high-grade glioma; diffuse midline glioma H3 K27-altered; glioblastoma; and circumscribed astrocytic glioma. Among the three patients who underwent molecular evaluation, two had KRAS mutation and one had H3-3A K27M mutation. Our results demonstrate the diverse histological and molecular characteristics of TG distinct from other LrGGs. Given the heterogeneous pathological background and the risk of pathological progression in TG, we emphasize the importance of comprehensive diagnosis, including molecular evaluation.
顶盖胶质瘤(TG)是一种罕见的低级别胶质瘤(LrGG),发生于中脑顶盖,主要影响儿童。TG与毛细胞型星形细胞瘤(PA)在病理上有相似之处,但最近的基因分析揭示了其独特特征,如KRAS和BRAF的改变。我们对2005年1月至2023年3月期间在我院临床诊断为TG并接受治疗的病例进行了回顾性研究。共识别出6例,中位年龄为30.5岁。4例患者接受了活检,2例患者接受了肿瘤切除术。组织学诊断包括3例PA、1例星形细胞瘤和2例高级别胶质瘤。根据世界卫生组织中枢神经系统肿瘤分类第五版的综合诊断,包括2例PA和各1例弥漫性高级别胶质瘤;H3 K27改变的弥漫性中线胶质瘤;胶质母细胞瘤;以及局限性星形细胞胶质瘤。在接受分子评估的3例患者中,2例有KRAS突变,1例有H3-3A K27M突变。我们的结果表明,TG具有不同于其他LrGG的多样组织学和分子特征。鉴于TG病理背景的异质性和病理进展风险,我们强调包括分子评估在内的综合诊断的重要性。
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