Patient-Reported Quality of Life Outcomes in Patients With Neurofibromatoses Undergoing Surgery

Abstract

INTRODUCTION: Surgical excision of dermal neurofibromas and peripheral nerve sheath tumors in patients with neurofibromatosis and Schwannomatosis represents a therapeutic challenge as no evidence-based guidelines for indicating surgery in these patients exist. Mainstay of treatment is symptomatic, focused primarily on pain management. We report our Neurofibroma center’s experience with surgical excision of Neurofibromas and peripheral nerve sheath tumors by describing patient demographics, tumor characteristics, indications, and the impact of surgery on patient-reported quality of life outcomes. METHODS: Patients with Neurofibromatosis type 1, type 2, and Schwannomatosis undergoing surgery for excision of neurofibromas or peripheral nerve sheath tumors during a consecutive 10-year period (2009–2019) enrolled in a prospective database as approved by our Institutional Review Board. Demographics, medical history, radiology, and surgical pathology reports were collected from the electronic medical record. A survey consisting of questions regarding interference of symptoms with daily activities (eg, dressing, ambulating), pain scale, impression of overall state of health, and experience with surgery was applied either in-person or over the phone. Survey questions were answered using a Likert scale. Primary outcome was comparison of the quality of life survey questions before and after surgery. Measures of central tendency and descriptive statistics were used to describe absolute and mean results of patient demographics and tumor characteristics. Student’s t tests were used to analyze binary datasets. Statistical significance was predetermined at P < 0.05. RESULTS: A total of 154 excisions were performed on 106 patients. Seventy-seven patients (72.6%) carried the diagnosis of Neurofibromatosis Type 1, 11 (10.4%) were diagnosed with Neurofibromatosis Type 2, 11 (10.4%) were diagnosed with Schwannomatosis, and 7 (6.6%) of patients were found to be sporadic. Pain was the most common presenting symptom (79%). The most common locations for excision were the extremities with 32.2% of cases occurring in the upper extremity and 35.8% in the lower extremity. Tumor size ranged from 0.2 cm to 25.5 cm, and the majority (46.7%) of lesions were between 2 cm and 4.9 cm in size. Pathologic analysis from the 154 operations revealed 87 (56.5%) cutaneous neurofibromas, 42 (27.3%) peripheral nerve sheath tumors and 10 (6.5%) plexiform neurofibromas. Improvement in overall general health after surgery was reported by 79% of patients. Analysis of survey responses demonstrated significantly decreased bodily pain (P < 0.0001) and interference from pain (P < 0.0001) postoperatively. One hundred percent of respondents reported improved quality of life after surgery, 85% did not regret undergoing surgical excision and 86% reported that they would “Definitely” undergo surgery again if indicated. CONCLUSION: Our neurofibroma center’s patient-reported outcomes demonstrate that surgical excision of neurofibromas and peripheral nerve sheath tumors improves symptoms, function of daily activities and patients’ overall impression of their quality of life. These data can support the creation of multidisciplinary guidelines on the role of surgery in patients with neurofibromatosis and Schwannomatosis.