Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1)
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1)
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DOI：
10.1093/brain/awg016
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发表时间：
2003-01-01
期刊：
影响因子：
14.5
通讯作者：
Wolkenstein, P
中科院分区：
文献类型：
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作者：
Guillamo, JS;Créange, A;Wolkenstein, P
除了多发性外周神经纤维瘤外，神经纤维瘤病1（NF 1）易患CNS肿瘤。大多数是毛细胞型星形细胞瘤，发生于儿童，位于视路或脑干。大多数是惰性的，但预测预后不良的因素尚未确定。此外，NF 1中发生于成人或累及其他部位的更高级别胶质瘤的发病率和自然史在很大程度上是未知的。为了解决这些问题，我们进行了一项回顾性研究，104例患者在1982年和2000年之间在法国的7个中心。入选标准是根据美国国立卫生研究院标准诊断为NF 1，并且存在CNS肿瘤，无论类型、位置或发病年龄如何。该系列包括88名儿童（年龄范围3个月至17岁）和16名成人（年龄范围19-52岁）。中位随访时间为5.6年。在104例患者中观察到127例CNS肿瘤。84例（66%）为视路肿瘤（OPT），43例（34%）为视路外肿瘤（extra-OPT）（脑干：n=21;其他部位：n=22）。21例患者（20%）患有多发性CNS肿瘤。50例患者的OPT有症状，19例患者的OPT外有症状。主要临床表现包括视力丧失（n=29; 58%）和性早熟（n=5; 10%）的OPT，颅内压升高（n=9; 48%）的extra-OPT。14/27有症状的肿瘤组织学毛细胞星形细胞瘤。5年总生存率为90%（95%置信区间82-95%）。视外部位、成年期肿瘤诊断和有症状的肿瘤是与生存期短相关的独立因素（P
In addition to multiple peripheral neurofibromas, Neurofibromatosis 1 (NF1) predisposes to CNS tumours. Most of them are pilocytic astrocytomas, arise in children and are located in the optic pathways or in the brainstem. The majority are indolent, but factors predictive of poor prognosis have yet to be identified. Furthermore, the incidence and natural history of gliomas of a higher grade, arising in adults or involving other locations are largely unknown in NF1. In order to address these issues, we performed a retrospective study of 104 patients followed in seven French centres between 1982 and 2000. Inclusion criteria were a diagnosis of NF1, according to the National Institutes of Health criteria, and the presence of a CNS tumour, regardless of type, location or age of onset. The series included 88 children (age range 3 months to 17 years) and 16 adults (age range 19-52 years). The median follow-up was 5.6 years. One hundred and twenty-seven CNS tumours were observed in the 104 patients. Eighty-four (66%) were optic pathway tumours (OPT) and 43 (34%) extra-optic pathway tumours (extra-OPT) (brainstem: n=21; other locations: n=22). Twenty-one patients (20%) had multiple CNS tumours. OPT were symptomatic in 50 patients and extra-OPT in 19. Main clinical findings at presentation included visual loss (n=29; 58%) and precocious puberty (n=5; 10%) for OPT, increased intracranial pressure (n=9; 48%) for extra-OPT. Fourteen out of the 27 symptomatic tumours with histology were pilocytic astrocytomas. The overall survival rate was 90% at 5 years (95% confidence interval 82-95%). Extra-optic location, tumour diagnosis in adulthood and symptomatic tumours were independent factors associated with shorter survival time (P