Relationship between whole-body tumor burden and quality of life in patients with neurofibromatosis.

Abstract

6136 Background: NF1, NF2, and schwannomatosis are a group of related genetic disorders in which affected individuals share the predisposition to develop multiple nerve sheath tumors. While previous studies have investigated the relationship between cutaneous tumor burden and quality of life, the relation between internal tumors and quality of life is unknown. Methods: As part of an IRB-approved research study, we performed whole-body MRI and administered the short form (SF)-36 to 245 adult subjects with NF. The number and location of internal nerve sheath tumors in each patient was identified by a board-certified radiologist and tumor volume was calculated using semi-automated volumetric analysis. One sample t-tests were used to compare subjects’ SF-36 scores to general population means. Independent linear regression analyses controlling for age and gender effects were used to relate whole-body tumor count, volume, and distribution (via Gini coefficient) to each domain of the SF-36. Results: 245 patients (142 with NF1, 53 with NF2, 50 with schwannomatosis) completed the study. On the SF-36, subjects with NF1 showed reduced quality of life in the physical role, emotional role, and mental health domains compared to the normal population (p<0.05). Subjects with NF2 showed reductions in the physical functioning, physical role, general health, and social functioning domains while subjects with schwannomatosis showed reductions in the physical role and bodily pain domains (p<0.05). In linear regression analysis, increased tumor number, increased tumor volume, and decreased Gini coefficient were correlated with decreased physical functioning in patients with NF2 (p<0.01). There was also a trend for increasing tumor volume to be correlated with decreased physical role and increased bodily pain in patients with NF1 and with increased bodily pain in patients with schwannomatosis (p<0.10). Conclusions: In our multi-institutional cohort, patients with all forms of neurofibromatosis show selected deficits in quality of life. Internal tumor burden does not correlate with these deficits, with the exception of physical function in NF2 patients.