title: Utility of positron emission tomography in schwannomatosis.
abstract: Schwannomatosis is characterized by multiple non-intradermal schwannomas with patients often presenting with a painful mass in their extremities. In this syndrome malignant transformation of schwannomas is rare in spite of their large size at presentation. Non-invasive measures of assessing the biological behavior of plexiform neurofibromas in neurofibromatosis type 1 such as positron emission tomography (PET), CT scanning and MRI are well characterized but little information has been published on the use of PET imaging in schwannomatosis. We report a unique clinical presentation portraying the use of PET imaging in schwannomatosis. A 27-year-old woman presented with multiple, rapidly growing, large and painful schwannomas confirmed to be related to a constitutional mutation in the SMARCB1 complex. Whole body PET/MRI revealed numerous PET-avid tumors suggestive of malignant peripheral nerve sheath tumors. Surgery was performed on multiple tumors and none of them had histologic evidence of malignant transformation. Overall, PET imaging may not be a reliable predictor of malignant transformation in schwannomatosis, tempering enthusiasm for surgical interventions for tumors not producing significant clinical signs or symptoms.
authors.affiliation: Department of Neurological Surgery, University of Arkansas for Medical Sciences, 4301 W. Markham Street, #507, Little Rock, AR 72205, USA. Electronic address: Elisha.lieber@gmail.com.
authors.forename: Bryan
authors.initials: B
authors.lastname: Lieber
authors.affiliation: New York University School of Medicine, New York, NY, USA.
authors.forename: ByoungJun
authors.initials: B
authors.lastname: Han
authors.affiliation: Department of Pediatric Neuro-oncology, New York University School of Medicine, New York, NY, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Allen
authors.affiliation: Department of Neuroradiology, New York University School of Medicine, New York, NY, USA.
authors.forename: Girish
authors.initials: G
authors.lastname: Fatterpekar
authors.affiliation: Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Nitin
authors.initials: N
authors.lastname: Agarwal
authors.affiliation: Department of Neurological Surgery, University of Arkansas for Medical Sciences, 4301 W. Markham Street, #507, Little Rock, AR 72205, USA.
authors.forename: Noojan
authors.initials: N
authors.lastname: Kazemi
authors.affiliation: Department of Neuropathology, New York University School of Medicine, New York, NY, USA.
authors.forename: David
authors.initials: D
authors.lastname: Zagzag
mesh_terms: D000328:Adult; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D009442:Neurilemmoma / Q000000981:diagnostic imaging* / Q000601:surgery*; D017253:Neurofibromatoses / Q000000981:diagnostic imaging* / Q000601:surgery*; D049268:Positron-Emission Tomography / Q000706:statistics & numerical data*; D012878:Skin Neoplasms / Q000000981:diagnostic imaging* / Q000601:surgery*; D014057:Tomography, X-Ray Computed / Q000706:statistics & numerical data
keywords: Malignant peripheral nerve sheath tumor; Positron emission technology; Schwannoma; Schwannomatosis