Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 6; pp. 1431 - 1437
• Main Authors: Merker, Vanessa L., Bredella, Miriam A., Cai, Wenli, Kassarjian, Ara, Harris, Gordon J., Muzikansky, Alona, Nguyen, Rosa, Mautner, Victor F., Plotkin, Scott R.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.06.2014; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Attention Deficit Disorder with Hyperactivity - diagnosis; Attention Deficit Disorder with Hyperactivity - psychology; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nerve Sheath Neoplasms - complications; Nerve Sheath Neoplasms - psychology; nerve sheath tumor; Neurilemmoma - complications; Neurilemmoma - psychology; Neurofibromatoses - complications; Neurofibromatoses - psychology; neurofibromatosis 1; Neurofibromatosis 1 - diagnostic imaging; Neurofibromatosis 1 - pathology; Neurofibromatosis 1 - psychology; neurofibromatosis 2; Neurofibromatosis 2 - diagnostic imaging; Neurofibromatosis 2 - pathology; Neurofibromatosis 2 - psychology; pain; Pain - complications; Pain Measurement; quality of life; Quality of Life - psychology; Radiography; schwannomatosis; SF-36; Skin Neoplasms - complications; Skin Neoplasms - psychology; Surveys and Questionnaires; Tumor Burden; whole-body MRI; Young Adult; pain; nerve sheath tumor; whole-body MRI; schwannomatosis; neurofibromatosis 2; quality of life; neurofibromatosis 1; SF-36
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.36466

Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis share a predisposition to develop multiple nerve sheath tumors. Previous studies have demonstrated that patients with NF1 and NF2 have reduced quality of life (QOL), but no studies have examined the relationship between whole‐body tumor burden and QOL in these patients. We administered a QOL questionnaire (the SF‐36) and a visual analog pain scale (VAS) to a previously described cohort of adult neurofibromatosis patients undergoing whole‐body MRI. One‐sample t‐tests were used to compare norm‐based SF‐36 scores to weighted population means. Spearman correlation coefficients and multiple linear regression analyses controlling for demographic and disease‐specific clinical variable were used to relate whole‐body tumor volume to QOL scales. Two hundred forty‐five patients (142 NF1, 53 NF2, 50 schwannomatosis) completed the study. Subjects showed deficits in selected subscales of the SF‐36 compared to adjusted general population means. In bivariate analysis, increased tumor volume was significantly associated with pain in schwannomatosis patients, as measured by the SF‐36 bodily pain subscale (rho = −0.287, P = 0.04) and VAS (rho = 0.34, P = 0.02). Regression models for NF2 patients showed a positive relationship between tumor burden and increased pain, as measured by the SF‐36 (P = 0.008). Patients with NF1, NF2, and schwannomatosis suffer from reduced QOL, although only pain shows a clear relationship to patient's overall tumor burden. These findings suggest that internal tumor volume is not a primary contributor to QOL and emphasize the need for comprehensive treatment approaches that go beyond tumor‐focused therapies such as surgery by including psychosocial interventions. © 2014 Wiley Periodicals, Inc.