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Association of intraneural perineurioma with neurofibromatosis type 2

  • Original Article - Peripheral Nerves
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Abstract

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.

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Authors and Affiliations

  1. Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA

    Courtney Pendleton, Robert J. Spinner & Carlos E. Restrepo

  2. Department of Neurology, Mayo Clinic, Rochester, MN, USA

    P. James B. Dyck, Michelle L. Mauermann & Christopher J. Klein

  3. Division of Plastic Surgery, University of Alberta, Edmonton, Alberta, Canada

    Adil Ladak

  4. Department of Health Science Research (Division of Biomedical Statistics and Informatics), Mayo Clinic, Rochester, MN, USA

    Saurabh Baheti

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  1. Courtney Pendleton
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Correspondence to Robert J. Spinner.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (name of institute/committee) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Retrospective study: For this type of study, formal consent is not required.

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Pendleton, C., Spinner, R.J., Dyck, P.J.B. et al. Association of intraneural perineurioma with neurofibromatosis type 2. Acta Neurochir 162, 1891–1897 (2020). https://doi.org/10.1007/s00701-020-04439-x

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