{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:57:07Z","timestamp":1790629027949,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>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\u2010body tumor burden and QOL in these patients. We administered a QOL questionnaire (the SF\u201036) and a visual analog pain scale (VAS) to a previously described cohort of adult neurofibromatosis patients undergoing whole\u2010body MRI. One\u2010sample <jats:italic>t<\/jats:italic>\u2010tests were used to compare norm\u2010based SF\u201036 scores to weighted population means. Spearman correlation coefficients and multiple linear regression analyses controlling for demographic and disease\u2010specific clinical variable were used to relate whole\u2010body tumor volume to QOL scales. Two hundred forty\u2010five patients (142 NF1, 53 NF2, 50 schwannomatosis) completed the study. Subjects showed deficits in selected subscales of the SF\u201036 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\u201036 bodily pain subscale (rho\u2009=\u2009\u22120.287, <jats:italic>P<\/jats:italic>\u2009=\u20090.04) and VAS (rho\u2009=\u20090.34, <jats:italic>P<\/jats:italic>\u2009=\u20090.02). Regression models for NF2 patients showed a positive relationship between tumor burden and increased pain, as measured by the SF\u201036 (<jats:italic>P<\/jats:italic>\u2009=\u20090.008). 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\u2010focused therapies such as surgery by including psychosocial interventions. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36466","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:53:49Z","timestamp":1395716029000},"page":"1431-1437","source":"Crossref","is-referenced-by-count":57,"title":["Relationship between whole\u2010body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis"],"prefix":"10.1002","volume":"164","author":[{"given":"Vanessa L.","family":"Merker","sequence":"first","affiliation":[{"name":"Department of Neurology and Cancer Center Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam A.","family":"Bredella","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenli","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ara","family":"Kassarjian","sequence":"additional","affiliation":[{"name":"Department of Radiology Corades, S.L. Majadahonda Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon J.","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alona","family":"Muzikansky","sequence":"additional","affiliation":[{"name":"Biostatistics Center Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Maryland Baltimore Maryland"},{"name":"Department of Neurology University Hospital Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor F.","family":"Mautner","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott R.","family":"Plotkin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Cancer Center Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000035638.74084.F4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2503080700"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200501000-00016"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337548"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000179303.72345.ce"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2779(2000)6:2<117::AID-MRDD5>3.0.CO;2-X"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000187594"},{"key":"e_1_2_6_10_1","first-page":"E47","article-title":"The neurofibromatoses. 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