Chiba Kentaro, Aihara Yasuo, Oda Yuichi, Masui Kenta, Komori Takashi, Yokoo Hideaki, Kawamata Takakazu
Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Department of Pathology I, Tokyo Women's Medical University, Tokyo, Japan.
NMC Case Rep J. 2023 Oct 14;10:265-271. doi: 10.2176/jns-nmc.2023-0018. eCollection 2023.
Extracranial brain tumor metastases are extremely rare. The etiology, pathophysiology, and clinical progression of systemic metastatic brain cancer remain to be elucidated. We encountered a case of pediatric diffuse high-grade astrocytoma in a four-year-old girl with subcutaneous and lymph node metastases. Numerous metastatic lesions emerged, progressed rapidly, and were difficult to manage despite temozolomide (TMZ) administration. The patient underwent repeated surgical resection for these lesions. Conversely, the primary intracranial lesions responded well to TMZ for some time. However, the patient died 15 months after the initial diagnosis. Extracranial metastasis and highly varying effects of chemotherapy were the characteristic clinical features in this case. Our analysis did not reveal definitive histopathological and molecular factors contributing to this presentation. The lack of notable molecular pathological features illustrates the unpredictability of glioma metastasis, and the treatment for extracranial metastasis remains unknown. A gene panel analysis revealed several genetic aberrations, including , , and mutations. As it is impossible to resect all frequently and rapidly progressing lesions, we stress that the prognosis of metastatic brain tumors is undoubtedly poor if these tumors are refractory to existing treatments, including chemotherapy.
颅外脑肿瘤转移极为罕见。系统性转移性脑癌的病因、病理生理学及临床进展仍有待阐明。我们遇到一例4岁女童患小儿弥漫性高级别星形细胞瘤并伴有皮下及淋巴结转移。出现了大量转移病灶，进展迅速，尽管给予了替莫唑胺（TMZ）治疗仍难以控制。该患者针对这些病灶接受了多次手术切除。相反，原发性颅内病灶在一段时间内对TMZ反应良好。然而，患者在初次诊断后15个月死亡。颅外转移及化疗效果高度多变是该病例的特征性临床特点。我们的分析未发现导致此表现的确切组织病理学和分子因素。缺乏显著的分子病理特征说明了胶质瘤转移的不可预测性，且颅外转移的治疗方法仍不明确。基因panel分析揭示了几种基因畸变，包括 、 和 突变。由于不可能切除所有频繁且快速进展的病灶，我们强调，如果转移性脑肿瘤对包括化疗在内的现有治疗方法难治，其预后无疑很差。
