Abstract：
A Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. The GG undertook thorough literature review and wrote recommendations for treatment and surveillance. A modified Delphi process was used to gain approval for recommendations which were further altered for maximal consensus. Schwannomatosis is a tumour predisposition syndrome leading to development of multiple benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect the vestibulocochlear nerves. Two definitive genes (SMARCB1/LZTR1) have been identified on chromosome 22q centromeric to NF2 that cause schwannoma development by a 3-event, 4-hit mechanism leading to complete inactivation of each gene plus NF2. These genes together account for 70-85% of familial schwannomatosis and 30-40% of isolated cases in which there is considerable overlap with mosaic NF2. Craniospinal MRI is generally recommended from symptomatic diagnosis or from age 12-14 if molecularly confirmed in asymptomatic individuals whose relative has schwannomas. Whole-body MRI may also be deployed and can alternate with craniospinal MRI. Ultrasound scans are useful in limbs where typical pain is not associated with palpable lumps. Malignant-Peripheral-Nerve-Sheath-Tumour-MPNST should be suspected in anyone with rapidly growing tumours and/or functional loss especially with SMARCB1-related schwannomatosis. Pain (often intractable to medication) is the most frequent symptom. Surgical removal, the most effective treatment, must be balanced against potential loss of function of adjacent nerves. Assessment of patients\' psychosocial needs should be assessed annually as well as review of pain/pain medication. Genetic diagnosis and counselling should be guided ideally by both blood and tumour molecular testing.
摘要：
从多个专科和患者召集了一个指南组（GG），以制定第一个全面的神经鞘瘤病指南。GG进行了全面的文献综述，并撰写了治疗和监测建议。使用改进的Delphi过程来获得对建议的批准，这些建议被进一步修改以获得最大共识。神经鞘瘤病是一种肿瘤易感性综合征，导致多种良性神经鞘非皮肤内神经鞘瘤的发展，很少影响前庭耳蜗神经。已在NF2的22q染色体着丝粒上鉴定出两个确定基因（SMARCB1/LZTR1），它们通过3个事件引起神经鞘瘤的发展，4-hit机制导致每个基因加NF2的完全失活。这些基因共同占70-85％的家族性神经鞘瘤病和30-40％的孤立病例，其中与镶嵌NF2有相当大的重叠。如果在亲属患有神经鞘瘤的无症状个体中得到分子证实，则通常建议从症状诊断或从12-14岁开始进行颅脊髓MRI。全身MRI也可以部署，并且可以与颅脑脊髓MRI交替使用。超声扫描在典型疼痛与可触及的肿块无关的四肢中很有用。对于任何患有快速生长的肿瘤和/或功能丧失的人，尤其是SMARCB1相关的神经鞘瘤病，应怀疑恶性-周围神经-鞘-肿瘤-MPNST。疼痛（通常难以治疗药物）是最常见的症状。手术切除,最有效的治疗方法,必须与相邻神经功能的潜在丧失相平衡。应每年评估患者的心理社会需求以及对疼痛/止痛药的评估。基因诊断和咨询应以血液和肿瘤分子检测为理想指导。
