弥漫性轻脑膜胶质细胞瘤:一例既往视神经星形细胞瘤的成人患者的有趣病例报告

Hojka Rowbottom
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摘要

弥漫性轻脑膜胶质神经元肿瘤(DLGT)是一种罕见的肿瘤类型,病例数量有限,预后不明确。它主要在儿童中诊断,更常见于男孩。临床表现取决于中枢神经系统受累的区域。诊断过程必须极其广泛。目前,尚无治疗指南。在本报告中,我们报告了一例26岁的男性诊断为DLGT,他在10岁时患有毛细胞星形细胞瘤(PA),手术切除后接受放疗。16年后,他的神经系统状况恶化,进行了广泛的诊断过程,包括使用下一代测序(NGS)进行分子基因检测,最终诊断为DLGT。据我们所知,我们报告了第一例DLGT病例,诊断为成人,小时候曾接受过PA治疗,不是恶性转化,而是中枢神经系统的两个原发性肿瘤,排除了神经纤维瘤病。
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Diffuse Leptomeningeal Glioneuronal Tumour: An Intriguing Case Report of an Adult Patient with a Previous Optic Astrocytoma
Diffuse leptomeningeal glioneuronal tumour (DLGT) represents a rare type of neoplasm with a limited number of cases and an ambiguous prognosis. It is mainly diagnosed in children, more often in boys. The clinical presentation depends on the area of the central nervous system involved. The diagnostic process must be extremely broad. Currently, no therapeutic guidelines exist. In this report, we present a case of a 26-year-old man diagnosed with DLGT, who at the age of 10, had a pilocytic astrocytoma (PA) that was surgically removed and was afterwards treated with radiotherapy. After 16 years, his neurological condition deteriorated and an extensive diagnostic process was conducted, including molecular genetic testing using the next generation sequencing (NGS), that led to the diagnosis of DLGT. To our knowledge, we present the first reported case of a DLGT, diagnosed in an adult, who as a child was treated for a PA, and was not a case of a malignant transformation, but rather a case of two primary tumours of the central nervous system, in whom neurofibromatosis was excluded.
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