Salem Raghad Hany, Almutairi Othman T, Bafaquh Mohammed Saeed
Department of Neurosurgery, King Saud Medical City, Riyadh, Saudi Arabia.
Department of Adult Neurosurgery, Neuroscience National Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Surg Neurol Int. 2023 Jul 28;14:261. doi: 10.25259/SNI_213_2023. eCollection 2023.
Malignant peripheral nerve sheath tumors (MPNSTs) are one of the rarest soft-tissue sarcomas with a prevalence of 0.001% in the general population. It is closely associated with a unique neurocutaneous stigmata under the spectrum of the dermatological manifestations of neurofibromatosis type 1 (NF1). Almost 81% of MPNST arises from a precursor neuroma, and multifocality of these lesions is extremely rare, making up to 0.001% of cases. Moreover, spinal cases are extremely uncommon with only four cases reported internationally. Here, we present the fifth and sixth spinal MPNST cases with a brief review of literature.
We describe two unusual cases of multifocal MPNST in relation to NF1 occurring in the spinal cord. Both patients presented with local pain and myelopathic symptoms. The two patients underwent wide surgical resection, followed by neoadjuvant radiotherapy and reported immediate postoperative improvement of the presented complaint; however, one patient suffered from rapid recurrence and metastasis.
Due to the scarcity of spinal cases related to MPNST, no clear guidelines regarding the management of these cases are set in the literature. Histopathological diagnosis remains as the most pivotal diagnostic tool as they can mimic other peripheral nerve sheath lesions, such as neuromas and schwannomas, in imaging. Cases that were managed by early surgical intervention in addition to neoadjuvant radiotherapy reported the best outcome. However, cases of MPNST in concomitance with NF1 were found to be resistant to both chemo and radiotherapy and have high recurrence rate.
恶性外周神经鞘瘤（MPNST）是最罕见的软组织肉瘤之一，在普通人群中的患病率为0.001%。它与1型神经纤维瘤病（NF1）皮肤表现谱下独特的神经皮肤体征密切相关。几乎81%的MPNST起源于前驱神经瘤，这些病变的多灶性极为罕见，仅占病例的0.001%。此外，脊髓病例极为罕见，国际上仅报道了4例。在此，我们报告第五例和第六例脊髓MPNST病例，并对文献进行简要回顾。
我们描述了两例与NF1相关的脊髓多灶性MPNST的不寻常病例。两名患者均表现为局部疼痛和脊髓病症状。两名患者均接受了广泛的手术切除，随后进行新辅助放疗，术后报告所诉症状立即改善；然而，一名患者出现快速复发和转移。
由于与MPNST相关的脊髓病例稀少，文献中未制定关于这些病例管理的明确指南。组织病理学诊断仍然是最关键的诊断工具，因为它们在影像学上可模仿其他外周神经鞘病变，如神经瘤和神经鞘瘤。除新辅助放疗外，通过早期手术干预治疗的病例报告了最佳结果。然而，发现与NF1伴发的MPNST病例对化疗和放疗均耐药，且复发率高。
