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评估MGMT状态和1p36缺失在仅用替莫唑胺迅速且完全缓解的放射外科诱发间变性室管膜瘤中的作用:病例报告及文献复习

Role of Evaluating MGMT Status and 1p36 Deletion in Radiosurgery-Induced Anaplastic Ependymoma That Rapidly and Completely Resolved by Temozolomide Alone: Case Report and Review of the Literature.

作者信息

Hirono Seiichiro, Iwadate Yasuo, Kambe Michiyo, Hiwasa Takaki, Takiguchi Masaki, Nakatani Yukio, Saeki Naokatsu

机构信息

Department of Neurological Surgery, Chiba University Graduate School of Medicine, Chuoku, Chiba, Japan.

Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chuoku, Chiba, Japan.

出版信息

J Neurol Surg Rep. 2015 Jul;76(1):e43-7. doi: 10.1055/s-0034-1396657. Epub 2015 Jan 16.

Abstract

Stereotactic gamma knife surgery (GKS)-induced brain tumors are extremely rare, and no ependymal tumors induced by GKS have been reported. Therefore, little is known about their clinical, pathologic, and genetic features. In addition, a regimen of adjuvant chemotherapy for anaplastic ependymoma (AE) has not been established. A 77-year-old man presented with a gait disturbance and left-side cerebellar ataxia more than 19 years after GKS performed for a cerebellar arteriovenous malformation. Imaging studies demonstrated an enhancing mass in the irradiated field with signs of intraventricular dissemination. Surgical resection confirmed the diagnosis of AE. Temozolomide (TMZ) was administrated postoperatively because the methylated promoter region of O(6)-methylguanine-DNA methyltransferase (MGMT) and 1p36 deletion were observed. Surprisingly, images 16 days after TMZ initiation demonstrated a complete resolution of the residual tumor that was maintained after three cycles of TMZ. This first case report of GKS-induced AE emphasizes the importance of genetic evaluation of MGMT and chromosomal deletion of 1p36 that are not commonly performed in primary ependymal tumors. In addition, it is speculated that a GKS-induced tumor may have a different genetic background compared with the primary tumor because the pathogenesis of the tumors differed.

摘要

立体定向伽玛刀手术(GKS)诱发的脑肿瘤极为罕见,且尚无GKS诱发室管膜瘤的相关报道。因此,对于其临床、病理及遗传学特征知之甚少。此外,间变性室管膜瘤(AE)的辅助化疗方案尚未确立。一名77岁男性在因小脑动静脉畸形接受GKS治疗19年余后,出现步态障碍和左侧小脑共济失调。影像学检查显示照射野内有一强化肿块,并伴有脑室播散迹象。手术切除确诊为AE。术后给予替莫唑胺(TMZ)治疗,因为观察到O(6)-甲基鸟嘌呤-DNA甲基转移酶(MGMT)启动子区域甲基化及1p36缺失。令人惊讶的是,TMZ开始使用16天后的影像显示残留肿瘤完全消退,且在三个周期的TMZ治疗后仍保持消退状态。这例首例GKS诱发AE的病例报告强调了MGMT基因评估及1p36染色体缺失检测的重要性,而这些检测在原发性室管膜瘤中并不常用。此外,推测GKS诱发的肿瘤可能与原发性肿瘤具有不同的遗传背景,因为两者的发病机制不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e566/4521005/c922c839476d/10-1055-s-0034-1396657-i140074-1.jpg

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