Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

Abstract

BACKGROUND:Neurofibromatosis type 2 (NF2) is rare genetic disorder mainly characterized by the development of central nervous system lesions, but peripheral nerve pathology may also cause high morbidity including pain, motor, and sensory loss.OBJECTIVE:To describe the tumor burden of patients with peripheral nerve pathology in NF2 including peripheral neuropathies and schwannomas and the results of surgery in the latter group.METHODS:We conducted a retrospective chart review of all patients with NF2 followed up at our NF2 Reference Center to include all patients suffering from peripheral nerve pathology. Tumor detection relied on focal MRIs based on symptoms.RESULTS:Thirty-four patients harboring 105 peripheral nerve schwannomas and 1 perineurioma were included. Schwannomas were mainly located in major nerves (n = 74, 71%) compared with subcutaneous (n = 23, 22%) and intramuscular (n = 8, 7%) cases. Most schwannomas (81/90-90%) were classical discrete tumors while multinodular cases represented only 9 cases (10%). During follow-up, 63 (60%) tumors were operated in 24 patients, including 39 schwannomas of major nerves. A complete resection was achieved in most of the cases (52/63, 83%) with a complete relief of preoperative pain in most patients (57/60, 95%). Persistent motor deficits (5/39, 13%) were mostly encountered in patients operated from multinodular schwannomas (4/5, 80%). Six patients had an associated peripheral neuropathy with 5 cases of pseudo-Charcot-Marie-Tooth–associated amyotrophy.CONCLUSION:Surgery remains a safe and effective method of treating peripheral nerve schwannoma-associated pain in NF2, with the exception of rare multinodular tumors. Special attention should be drawn to patients harboring severely debilitating neuropathies and perineuriomas.

Schwannomatosis: a Realm Reborn: year one

“…Surgery remains the first therapeutic option for most SWN-related tumors including spinal [25] and peripheral nerve schwannomas [26 ▪ ,27], meningiomas and spinal ependymomas [28]. Although the main principles of meningioma, ependymoma and vestibular schwannoma surgery and hearing rehabilitation (Cohlear Implant and Auditory Brainstem Implants) have remained the same over the past few years, several reports have recently focused on peripheral nerve surgery in SWN, illustrating the benefit of entrapment neuropathy surgery in SWN patients, that may be due to either a small, focal tumor within the nerve or mild thickening of the nerve at a point of nerve constriction [26 ▪ ,29] and the possibility of nerve repair using acellularized nerve allografts [30]. Gugel et al [27] investigated the clinical and functional outcome of 205 operated peripheral ( n = 148, 72%) and intraspinal ( n = 57, 28%) schwannomas in 85 patients (53 NF2 -SWN, 32 non- NF2 -SWN) and demonstrated improvement in pain intensity in 81% of patients with 85% of complete resection and a low rate (1%) of surgical complications.…”

Neurofibromatosis Type 2 (NF2): Molecular Insights and Therapeutic Avenues

“…NF2 syndrome also involves peripheral nerve pathology, which can cause high morbidity including pain, motor, and sensory loss. Surgery can be a safe and effective treatment for schwannoma-associated pain [12]. Spinal tumors in NF2 syndrome include both intramedullary and extramedullary spinal tumors.…”

Commentary: Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

“…In their recently published study, the authors meet this need by presenting data gathered from following outcomes in 105 peripheral nerve schwannomas and 1 intraneural perineurioma in a cohort of 34 patients with NF2 seen at their institution. 7 The data from this study yielded 2 valuable clinical pearls related to the natural history of peripheral nerve tumors in patients with NF2. First, the authors establish that there is considerable diversity in the site and type of peripheral nerve tumors in patients with NF2.…”