Brokinkel Benjamin, Schober Otmar, Ewelt Christian, Heindel Walter, Hargus Gunnar, Stummer Walter, Holling Markus, Wölfer Johannes
Department of Neurosurgery, University Hospital Muenster, Muenster, Germany.
Department of Nuclear Medicine, University Hospital Muenster, Muenster, Germany.
J Neurol Surg A Cent Eur Neurosurg. 2013 Dec;74 Suppl 1:e203-6. doi: 10.1055/s-0033-1342938. Epub 2013 May 13.
Low-grade gliomas (e.g., pilocytic astrocytomas) are frequently found in patients with neurofibromatosis type 1 (NF1). Whereas most of those lesions are located supratentorially, cerebellar manifestations are described in < 1%. Malignant variants like glioblastoma and anaplastic astrocytoma (AA) are only rarely observed in NF1 patients. Thus, cerebellar AA is very infrequent and has not yet been described in an adult NF1 patient.
We present the case of a 54-year-old male patient with von Recklinghausen disease who had a diffuse contrast-enhancing cerebellar mass that was resected guided by aminolevulinic acid (ALA)-fluorescence. Histopathological analyses revealed an AA with lack of pilocytic features or O6-methylguanine-DNA methyltransferase (MGMT) promoter hypermethylation. Due to the proximity of the tumor to the brainstem, adjuvant temozolomide chemotherapy was administered rather than first-line radiotherapy. Although the patient recovered quickly after the operation and tumor progression was ruled out in follow-up magnetic resonance imaging (MRI), the patient strongly deteriorated during a 16-month follow-up, and MRI revealed severe leukoencephalopathy. Extensive electrophysiological and radiological examination revealed a neurodegenerative disease of unknown etiology. Finally, the patient's condition improved receiving levodopa.
A literature search yielded only one previously published case of an AA in a 9-year-old girl with NF1. Tumor control after resection was achieved in both patients; however, the patient in the mentioned report received radiation instead of temozolomide. In spite of different adjuvant therapies, tumor control for at least 16 months was achieved in both published cases. Thus, even though the role of adjuvant treatment options remains to be further elucidated, surgery is the appropriate therapy in these uncommon tumors providing mass reduction and histological diagnosis as well as tumor control.
低级别胶质瘤（如毛细胞型星形细胞瘤）在1型神经纤维瘤病（NF1）患者中较为常见。虽然这些病变大多位于幕上，但小脑表现的报道不到1%。胶质母细胞瘤和间变性星形细胞瘤（AA）等恶性变体在NF1患者中很少见。因此，小脑AA非常罕见，尚未在成年NF1患者中得到描述。
我们报告一例54岁患有冯雷克林霍增氏病的男性患者，其小脑有弥漫性强化肿块，在氨基乙酰丙酸（ALA）荧光引导下进行了切除。组织病理学分析显示为AA，缺乏毛细胞特征或O6-甲基鸟嘌呤-DNA甲基转移酶（MGMT）启动子高甲基化。由于肿瘤靠近脑干，给予了辅助替莫唑胺化疗而非一线放疗。尽管患者术后恢复迅速，随访磁共振成像（MRI）排除了肿瘤进展，但在16个月的随访中患者病情严重恶化，MRI显示严重白质脑病。广泛的电生理和放射学检查显示为病因不明的神经退行性疾病。最后，患者接受左旋多巴治疗后病情好转。
文献检索仅发现一例先前发表的9岁NF1女孩患AA的病例。两例患者切除术后均实现了肿瘤控制；然而，上述报告中的患者接受的是放疗而非替莫唑胺。尽管辅助治疗方案不同，但两例已发表病例均实现了至少16个月的肿瘤控制。因此，尽管辅助治疗方案的作用仍有待进一步阐明，但手术是这些罕见肿瘤的合适治疗方法，可实现肿瘤体积缩小、组织学诊断以及肿瘤控制。
