Christine S Higham1,2, Eva Dombi1, Aljosja Rogiers3, Sucharita Bhaumik1,4, Steven Pans5, Steve E J Connor6, Markku Miettinen7, Raf Sciot8, Roberto Tirabosco9, Hilde Brems3, Andrea Baldwin1, Eric Legius3, Brigitte C Widemann1, Rosalie E Ferner10. 1. National Cancer Institute, Center for Cancer Research, Pediatric Oncology Branch, Bethesda, Maryland, USA. 2. Children's National Medical Center, Washington, DC, USA. 3. Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium. 4. Winthrop University Hospital, Department of Hematology & Oncology, Mineola, New York, USA. 5. Department of Radiology, University Hospital Leuven, Leuven, Belgium. 6. Department of Radiology, Guy's and St. Thomas' NHS Foundation Trust, Kings College Hospital London, London, England. 7. National Cancer Institute, Laboratory of Pathology, Bethesda, Maryland, USA. 8. Department of Imaging and Pathology, Catholic University of Leuven, Leuven, Belgium. 9. Royal National Orthopaedic Hospital NHS Foundation Trust, London, England. 10. Neurofibromatosis Center, Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London and King's College, London, England.
Abstract
Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in preexisting benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches. Methods: We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at 3 institutions. Results: Sixty-three patients had 76 ANF (32M/31F; median age 27.1 y). On MRI, most ANF appeared as distinct nodular lesions and were 18F-fluorodeoxyglucose (FDG) avid. Forty-six ANF were associated with pain, 19 with motor weakness, 45 were palpable or visible, and 13 had no clinical signs. Completely resected ANF (N = 57) have not recurred (median follow-up, 4.1 y; range, 0-14 y). Four ANF transformed into MPNST and 17 patients had a history of MPNST in a different location than was their ANF. Conclusions: Growth of distinct nodular lesions, pain, and FDG-PET avidity should raise concern for ANF in NF1. Patients with ANF are at greater risk for development of MPNST. Complete resection of ANF may prevent development of MPNST.
Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in preexisting benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches. Methods: We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at 3 institutions. Results: Sixty-three patients had 76 ANF (32M/31F; median age 27.1 y). On MRI, most ANF appeared as distinct nodular lesions and were 18F-fluorodeoxyglucose (FDG) avid. Forty-six ANF were associated with pain, 19 with motor weakness, 45 were palpable or visible, and 13 had no clinical signs. Completely resected ANF (N = 57) have not recurred (median follow-up, 4.1 y; range, 0-14 y). Four ANF transformed into MPNST and 17 patients had a history of MPNST in a different location than was their ANF. Conclusions: Growth of distinct nodular lesions, pain, and FDG-PET avidity should raise concern for ANF in NF1. Patients with ANF are at greater risk for development of MPNST. Complete resection of ANF may prevent development of MPNST.
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