Martin Enrico, Flucke Uta E, Coert J Henk, van Noesel Max M
Department of Plastic and Reconstructive Surgery, University Medical Center Utrecht, G04.126, PO Box 85060, 3508, AB, Utrecht, the Netherlands.
Department of Solid Tumors, Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Childs Nerv Syst. 2020 Oct;36(10):2453-2462. doi: 10.1007/s00381-020-04687-3. Epub 2020 Jun 3.
Malignant peripheral nerve sheath tumors (MPNSTs) are rare yet highly aggressive soft tissue sarcomas. Children with neurofibromatosis type 1 (NF1) have a 10% lifetime risk for development of MPNST. Prognosis remains poor and survival seems worse for NF1 patients.
This narrative review highlights current practices and pitfalls in the management of MPNST in pediatric NF1 patients.
Preoperative diagnostics can be challenging, but PET scans have shown to be useful tools. More recently, functional MRI holds promise as well. Surgery remains the mainstay treatment for these patients, but careful planning is needed to minimize postoperative morbidity. Functional reconstructions can play a role in improving functional status. Radiotherapy can be administered to enhance local control in selected cases, but care should be taken to minimize radiation effects as well as reduce the risk of secondary malignancies. The exact role of chemotherapy has yet to be determined. Reports on the efficacy of chemotherapy vary as some report lower effects in NF1 populations. Promisingly, survival seems to ameliorate in the last few decades and response rates of chemotherapy may increase in NF1 populations when administering it as part of standard of care. However, in metastasized disease, response rates remain poor. New systemic therapies are therefore desperately warranted and multiple trials are currently investigating the role of drugs. Targeted drugs are nevertheless not yet included in first line treatment.
Both research and clinical efforts benefit from multidisciplinary approaches with international collaborations in this rare malignancy.
恶性外周神经鞘瘤（MPNST）是一种罕见但侵袭性很强的软组织肉瘤。1型神经纤维瘤病（NF1）患儿一生中患MPNST的风险为10%。NF1患者的预后仍然很差，生存率似乎更低。
本叙述性综述重点介绍了小儿NF1患者MPNST治疗中的当前实践和陷阱。
术前诊断可能具有挑战性，但PET扫描已被证明是有用的工具。最近，功能磁共振成像也很有前景。手术仍然是这些患者的主要治疗方法，但需要仔细规划以尽量减少术后发病率。功能重建可在改善功能状态方面发挥作用。在某些选定病例中可进行放射治疗以加强局部控制，但应注意尽量减少放射效应以及降低继发恶性肿瘤的风险。化疗的确切作用尚未确定。关于化疗疗效的报告各不相同，因为一些报告显示在NF1人群中疗效较低。令人鼓舞的是，在过去几十年中生存率似乎有所改善，并且当将化疗作为标准治疗的一部分应用于NF1人群时，化疗的缓解率可能会提高。然而，在转移性疾病中，缓解率仍然很低。因此，迫切需要新的全身治疗方法，目前多项试验正在研究药物的作用。不过，靶向药物尚未纳入一线治疗。
对于这种罕见的恶性肿瘤，研究和临床工作都受益于多学科方法和国际合作。
