神经纤维瘤病1型相关恶性周围神经鞘瘤的生存和预后：系统综述和荟萃分析
Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis.
摘要(中文译文)
恶性外周神经鞘瘤（MPNST）是一种罕见且侵袭性强的肉瘤，死亡率高。MPNST可散发发生、发生于放射治疗之后，或与1型神经纤维瘤病（NF1）相关。其治疗具有挑战性，尤其是在无法手术切除的情况下。NF1是一种常染色体显性遗传病，最常由NF1基因的胚系致病性变异引起，少数情况下由NF1基因缺失所致。NF1患者罹患多种不同癌症的风险较高，其中MPNST是最常见的类型之一。NF1个体的MPNST通常表现为较大的肿瘤，往往无法手术切除。多项研究显示，NF1相关MPNST（nfMPNST）患者的总体生存劣于散发性MPNST（sMPNST）患者。尽管如此，NF1状态本身可能并非预后不良的致病因素，而更可能是由于较大肿瘤的发生率较高，而较大肿瘤完整切除更具挑战性。采用PRISMA-P模型制定了系统性研究方案，并使用PICO模型确定了综述问题及纳入和排除标准。PICO定义的研究特征包括以NF1患者为目标人群，将MPNST的发生视为干预因素，选择sMPNST患者作为对照，主要关注的结局为生存。文献检索于2024年10月12日进行，共有4，394项研究符合筛选条件，其中36项研究被纳入本研究。对八项研究的荟萃分析发现，NF1状态是MPNST生存的危险因素。各研究报告的生存率存在差异，但5年总生存（OS）总体上仍然较差，其中15项研究显示nfMPNST的生存显著更差。仅四项研究显示sMPNST生存更差，但均无显著差异。这项对36项研究的系统综述和荟萃分析的发现表明，与sMPNST相比，nfMPNST患者的生存更差。
Abstract
Malignant peripheral nerve sheath tumour (MPNST) is a rare, aggressive sarcoma with high mortality. MPNST can develop sporadically, after radiation therapy or in association with neurofibromatosis type 1 (NF1). The treatment is challenging especially if surgical removal is not possible. NF1 is an autosomal-dominant genetic disorder most often caused by a germline pathogenic variant in the NF1 gene and in rare cases a deletion of the NF1 gene. Patients with NF1 have a higher risk of developing several different cancers, of which MPNST is one of the most frequent. MPNST in individuals with NF1 often presents with large MPNST which are often not accessible for surgery. Several studies have shown that patients with NF1-associated MPNST (nfMPNST) have an overall inferior survival than those with sporadic MPNST (sMPNST). Despite this, NF1 status alone may not be a causative factor for poor prognosis, which might rather be due to the incidence of larger tumours, which are more challenging to resect in toto. A systematic research protocol was made using the PRISMA-P model and the review question and inclusion and exclusion criteria were defined using the PICO model. The study characteristics defined by PICO include patients with NF1 as the population of interest. The development of MPNST was considered as the intervention, patients with sMPNST were chosen for comparison and the primary outcome of interest was survival. The literature search was performed on 12 October 2024 and 4,394 studies were eligible for screening, of which 36 studies were included in this study. Meta-analysis of eight studies found NF1 status to be a risk factor for the survival of MPNST. The reported survival rates varied between studies, but the 5-year overall survival (OS) remained poor in general, Awith 15 studies showing a significantly inferior survival for nfMPNST. Only four studies have a worse survival for sMPNST, but none with a significant difference. The findings in this systematic review and meta-analysis of 36 studies indicates that patients with nfMPNST have a worse survival compared to sMPNST.
如何引用
AMA
Mette Møller Handrup, Ninna Aggerholm-Pedersen, Stine Bogetofte Thomasen, Emma Hyldgaard Olesen, Cecilie Ejerskov. Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis.. Orphanet journal of rare diseases. 2026; doi:10.1186/s13023-026-04460-w.
APA
Mette Møller Handrup, Ninna Aggerholm-Pedersen, Stine Bogetofte Thomasen, Emma Hyldgaard Olesen, Cecilie Ejerskov (2026). Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-026-04460-w
GB/T 7714
Mette Møller Handrup, Ninna Aggerholm-Pedersen, Stine Bogetofte Thomasen, Emma Hyldgaard Olesen, Cecilie Ejerskov. Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis.[J]. Orphanet journal of rare diseases, 2026 doi:10.1186/s13023-026-04460-w.
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