Background

Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by mutations of the NF2 tumor suppressor gene that predisposes patients to develop multiple tumors in the peripheral and central nervous system. The most common neoplasms associated with the disease are schwannomas and meningiomas. Both have been shown to contain abnormalities in chromosome 22 and the NF2 gene, suggesting a genetic component to their pathogenesis. Perineuriomas are rare benign tumors arising from the perineural cells. They are commonly classified as intraneural and soft tissue perineuriomas. Several studies have reported mutations in genes on chromosome 22 in both types of perineuriomas, and there are reports of soft tissue perineuriomas associated with NF2 gene mutations. Despite this, perineuriomas are not considered as part of the NF2 constellation of tumors.

Method

The electronic medical records were searched for patients with a radiologic or pathologic diagnosis of intraneural perineurioma. Patients with clinical signs and genetic testing consistent with a diagnosis of NF2 were further evaluated.

Results

Of 112 patients meeting inclusion criteria, there were two cases of intraneural perineurioma in patients with NF2 treated at our institution (1.8%). We include a third patient treated at another facility for whom we performed a virtual consultation.

Conclusions

The rarity of both NF2 and perineuriomas could explain the rarity of perineuriomas in the setting of NF2. Furthermore, there is divergent intraneural and soft tissue perineurioma somatic mutation pathogenesis, and there may be cytogenetic overlap between perineuriomas and multiple tumor syndromes. Our observed occurrence of intraneural perineurioma in the setting of NF2 in several patients provides further evidence of a potential link between the NF2 gene and the development of intraneural perineurioma.

中文翻译：

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神经内神经鞘膜瘤与2型神经纤维瘤病的关系。

背景

2型神经纤维瘤病（NF2）是一种遗传性疾病，其特征在于NF2肿瘤抑制基因的突变，使患者易于在周围和中枢神经系统中发展出多种肿瘤。与该疾病有关的最常见肿瘤是神经鞘瘤和脑膜瘤。两者均显示在22号染色体和NF2基因中含有异常，提示其发病机理具有遗传成分。神经鞘瘤是由神经周细胞引起的罕见良性肿瘤。它们通常被分类为神经内和软组织神经鞘瘤。几项研究报告了两种类型的神经鞘瘤中22号染色体上基因的突变，并且有报道称与NF2相关的软组织神经鞘瘤基因突变。尽管如此，神经周瘤并不被认为是肿瘤NF2星座的一部分。

方法

检索电子病历，以寻找神经内神经鞘瘤的放射学或病理学诊断。临床症状和基因检查与NF2诊断相符的患者将得到进一步评估。

结果

在符合入组标准的112例患者中，有2例在我们机构接受NF2治疗的神经内神经周神经瘤病例（1.8％）。我们包括第三位在另一家医院接受治疗的患者，我们对其进行了虚拟咨询。

结论

NF2和周围神经瘤的稀有性可以解释NF2背景下神经鞘瘤的稀有性。此外，神经内和软组织神经鞘瘤的体细胞突变发病机制不同，神经鞘瘤和多种肿瘤综合征之间可能存在细胞遗传学重叠。我们在几例患者中观察到的神经内神经鞘膜瘤的发生为一些患者提供了NF2基因与神经内神经鞘膜瘤发展之间潜在联系的进一步证据。