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弥漫性低级别星形细胞瘤的早期非典型恶性转化:基因分型的重要性。

Early atypical malignant transformation of diffuse low-grade astrocytoma: The importance of genotyping.

作者信息

Valente Aguiar Pedro, Sousa Osvaldo, Silva Roberto, Vaz Rui, Linhares Paulo

机构信息

Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal; Faculty of Medicine, Oporto University, Portugal.

Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal; Faculty of Medicine, Oporto University, Portugal.

出版信息

Neurocirugia (Engl Ed). 2020 Nov 5. doi: 10.1016/j.neucir.2020.09.003.

DOI:10.1016/j.neucir.2020.09.003
PMID:33162332
Abstract

Diffuse astrocytoma (WHO grade II) has classically been considered a slow growing tumour, typically affecting young adults, with tendency for late malignant conversion. We describe a case of early atypical malignant transformation of diffuse astrocytoma seventeen months after complete surgical removal, as an intraventricular high-grade glioma (HGG). Retrospective laboratory findings for the presence of IDH 1/2 (isocitrate dehydrogenase) mutations were negative. There is growing evidence that IDH-wildtype (wt) astrocytomas behave more aggressively, therefore identifying IDH-mutation status should be mandatory in order to determine disease prognosis and guide treatment course.

摘要

弥漫性星形细胞瘤(世界卫生组织二级)传统上被认为是一种生长缓慢的肿瘤,通常影响年轻人,有晚期恶性转化的倾向。我们描述了一例弥漫性星形细胞瘤在完全手术切除17个月后早期发生非典型恶性转化的病例,转化为脑室内高级别胶质瘤(HGG)。回顾性实验室检测异柠檬酸脱氢酶(IDH)1/2突变的结果为阴性。越来越多的证据表明,异柠檬酸脱氢酶野生型(wt)星形细胞瘤的行为更具侵袭性,因此确定异柠檬酸脱氢酶突变状态对于确定疾病预后和指导治疗过程至关重要。

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