title: Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.
abstract: Internal plexiform neurofibromas are a major cause of adverse outcomes in patients with neurofibromatosis 1 (NF1). We investigated the relationship of the numbers of subcutaneous neurofibromas of the scalp or body to internal plexiform tumor volume in 120 NF1 patients who had undergone whole body magnetic resonance imaging (MRI). We identified internal plexiform neurofibromas in 55% of patients, subcutaneous neurofibromas of the body in 75%, and subcutaneous neurofibromas of the scalp in 45%. The number of subcutaneous neurofibromas of the body and scalp were associated with each other (Spearman's Rho = 0.36; P < 0.001). The presence of internal tumors was associated with the presence (odds ratio [OR] = 4.38, 95% confidence interval [CI] 2.04-9.86, P < 0.001) and number (OR = 1.06 per neurofibroma, 95% CI 1.02-1.13, P < 0.001) of subcutaneous neurofibromas of the scalp. The total internal tumor volume was associated with the number of subcutaneous neurofibromas of the body (OR = 1.00086 per neurofibroma, 1.000089-1.0016, P = 0.029) and of the scalp (OR = 1.056 per neurofibroma, 1.029-1.083, P < 0.0001). Numbers of subcutaneous neurofibromas of the scalp and body are associated with internal plexiform tumor burden in NF1. Recognition of these associations may improve clinical management by helping to identify patients who will benefit most from whole body MRI and more intense clinical surveillance.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Jett
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.|Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.
authors.forename: Rosa
authors.initials: R
authors.lastname: Nguyen
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Darian
authors.initials: D
authors.lastname: Arman
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Patricia
authors.initials: P
authors.lastname: Birch
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Harleen
authors.initials: H
authors.lastname: Chohan
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Said
authors.initials: S
authors.lastname: Farschtschi
authors.affiliation: MRI-Institute Altona, Hamburg, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Fuensterer
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Lan
authors.initials: L
authors.lastname: Kluwe
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Victor F
authors.initials: VF
authors.lastname: Mautner
mesh_terms: D006801:Humans; D018318:Neurofibroma, Plexiform / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology*; D016017:Odds Ratio; D012535:Scalp / Q000473:pathology*; D012878:Skin Neoplasms / Q000473:pathology*; D040521:Subcutaneous Tissue / Q000473:pathology*; D047368:Tumor Burden / Q000502:physiology*; D051598:Whole Body Imaging / Q000379:methods
keywords: magnetic resonance imaging; neurofibromatosis 1; plexiform neurofibroma; subcutaneous neurofibroma