Benign peripheral nerve sheath tumors: an interdisciplinary diagnostic and therapeutic challenge

Abstract

A benign peripheral nerve sheath tumor (bPNST) is a rare lesion associated with peripheral nerval structures. Symptoms may be heterogeneous, complicating diagnosis finding. Additionally, management concepts of bPNST may vary. In some cases, initial misdiagnosis leads to mistreatment resulting in severe functional deficits and chronic pain syndromes. Therefore, we analyzed patients treated for bPNST in our specialized institution with a primary focus on prior misdiagnosis and possible mistreatment. Patients with bPNSTs (schwannomas, neurofibromas, hybrid nerve sheath tumors, and perineuriomas) treated at the Neurosurgical Department between January 1, 2015, and July 31, 2021, were included. Assessment of demographics, tumor entity, tumor location, symptoms, the interval between the onset of symptoms and surgery, involved medical specialties, and outpatients’ treatment, with particular focus on initial misdiagnosis and inappropriate medical treatment, was performed. Eighty-five patients were included in the final analysis with schwannoma being the most prevalent histopathological diagnosis (schwannoma (75.3%, n=64), neurofibroma (12.9%, n=11), hybrid nerve sheath tumor (5.9%, n=5), and perineurioma (5.9%, n=5)). An incorrect primary diagnosis was detected in 44.7% (n=38), leading to suboptimal or insufficient treatment in these cases. Of those, 28.9% (n=11/38) were treated suboptimal, while 18.5% (n=7/38) underwent unnecessary invasive diagnostics. Inappropriate surgery based on prior misdiagnosis, which led to severe neurological deficits in all these cases, was reported in 26.3% (n=10/38). For the first time, our data shows the quantity and impact of incorrect initial diagnosis in bPNST causing a delay in causative treatment or resulting in unnecessary or potentially harmful treatment.

Health-related quality of life in patients with peripheral nerve tumors: results from the German multicentric Peripheral Nerve Tumor Registry

“…A non-negligible percentage of motor and sensory deficits occurred after previous surgeries or needle biopsies in non-specific centers; those deficits are frequently permanent. The harm that can be caused due to surgical treatment in non-specialized centers has been shown in a recent study and supports our results ( 4 ). Overall, the key observation is that patients who presented deficits prior to surgery are more prone to experiencing permanent deficits.…”

“…Because neurological deficits determine life quality, especially in the domain of mobility, self-care, and usual activities, these previous surgeries can negatively influence HRQoL. Furthermore, due to their rarity, patients often experience a long diagnostic process in the future with the potential of misdiagnosis and severe consequences (44.7%) ( 4 ).…”

“…Right from the start of treatment, the main challenge is to choose between open biopsy, surgical resection, or conservative management ( 3 ). To date, clinical trial evidence with robust epidemiological and clinical information is limited mainly to single-center results regarding schwannoma and neurofibroma, most frequent among PNTs and benign tumors ( 4 ). Other rare entities, such as perineurioma, amyloidoma, lipoma, desmoid, lymphoma, and malignant peripheral nerve sheath tumors (MPNSTs), are scarcely described ( 5 , 6 ).…”