小儿弥漫性高级星形细胞瘤的全身转移1例报告。

NMC case report journal Pub Date : 2023-10-14 eCollection Date: 2023-01-01 DOI:10.2176/jns-nmc.2023-0018
Kentaro Chiba, Yasuo Aihara, Yuichi Oda, Kenta Masui, Takashi Komori, Hideaki Yokoo, Takakazu Kawamata
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摘要

颅外脑肿瘤转移极为罕见。系统性转移性脑癌的病因、病理生理和临床进展仍有待阐明。我们遇到了一个4岁女孩的儿童弥漫性高级别星形细胞瘤,并伴有皮下和淋巴结转移。许多转移性病变出现,进展迅速,尽管使用替莫唑胺(TMZ)仍难以控制。患者接受了多次手术切除这些病变。相反,原发性颅内病变在一段时间内对TMZ反应良好。然而,患者在初步诊断后15个月死亡。颅外转移和化疗效果的高度变化是本病例的典型临床特征。我们的分析并没有明确揭示导致这种表现的组织病理学和分子因素。缺乏显著的分子病理特征说明胶质瘤转移的不可预测性,颅内外转移的治疗仍然未知。基因面板分析显示了几种遗传畸变,包括PDGFRA、PIK3CA和NBN突变。由于不可能切除所有频繁和快速进展的病变,我们强调,如果转移性脑肿瘤对现有的治疗方法(包括化疗)难以治愈,预后无疑是很差的。
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Systemic Metastasis of Pediatric Diffuse High-grade Astrocytoma: A Case Report.

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 PDGFRA, PIK3CA, and NBN 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.

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