Oyama Takahiro, Nishimura Yusuke, Nagashima Yoshitaka, Nishii Tomoya, Hara Masahito, Takayasu Masakazu, Sakakibara Ayako, Saito Ryuta
Department of Neurosurgery, Nagoya University, Nagoya.
Department of Neurosurgery, Aichi Medical University, Nagakute.
Surg Neurol Int. 2022 Jun 23;13:261. doi: 10.25259/SNI_453_2022. eCollection 2022.
Schwannomatosis (SWN) is genetically similar to neurofibromatosis type 2 (NF2) and represents a NF2 gene mutation. Previous studies have shown that these mutations in both neurons and Schwann cells can lead to the development of schwannomas after nerve crush injuries. Here, we reviewed the potential pathoanatomical mechanisms for the development of a trauma-induced spinal schwannomas in a 55-year-old male with SWN.
A 49-year-old male had originally undergone a L3-L5 lumbar laminectomy for stenosis; the schwannomas seen on the preoperative magnetic resonance imaging (MRI) were not resected. Now at age 55, he newly presented with low back pain and numbness in the left L5 dermatome, and he was diagnosed with an L4 vertebral level cauda equina tumor on MRI. Following gross-total resection, the histopathological assessment revealed a Ki-67 labeling index 5-10% in hotspots (i.e., slightly higher than the normal range of schwannomas) and a 20% mosaic loss of SMARCB1. Based on these criteria, he was diagnosed as having SWN.
In this patient with SWN, compression/physical trauma to nerves of the cauda equina during the L3-L5 laminectomy 6 years ago likely caused the progression of schwannoma.
施万细胞瘤病(SWN)在基因上与2型神经纤维瘤病(NF2)相似,代表一种NF2基因突变。先前的研究表明,神经元和施万细胞中的这些突变可导致神经挤压伤后施万瘤的发生。在此,我们回顾了一名患有SWN的55岁男性创伤性脊髓施万瘤发生的潜在病理解剖机制。
一名49岁男性最初因腰椎管狭窄接受了L3-L5腰椎椎板切除术;术前磁共振成像(MRI)上所见的施万瘤未被切除。现在55岁时,他新出现下背部疼痛和左L5皮节麻木,MRI诊断为L4椎体水平马尾神经肿瘤。在进行全切除术后,组织病理学评估显示热点区域的Ki-67标记指数为5-10%(即略高于施万瘤的正常范围),SMARCB1有20%的镶嵌缺失。基于这些标准,他被诊断为患有SWN。
在这名患有SWN的患者中,6年前L3-L5椎板切除术中马尾神经受压/受到物理创伤可能导致了施万瘤的进展。