[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation

The objective of this study was to investigate the predictive value of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) in detecting malignant transformation of plexiform neurofibromas in children with neurofibromatosis type 1 (NF1). An electronic search of the medical records was performed to determine patients with NF1 who had undergone FDG-PET for plexiform neurofibroma between 2000 and 2011. All clinical, radiologic, pathology information and operative reports were reviewed. Relationship between histologic diagnosis, radiologic features and FDG-PET maximum standardized uptake value (SUV_max) was evaluated. This study was approved by the Institutional Review Board of our institution. 1,450 individual patients were evaluated in our Multidisciplinary Neurofibromatosis Program, of whom 35 patients underwent FDG-PET for suspected MPNST based on change or progression of clinical symptoms, or MRI findings suggesting increased tumor size. Twenty patients had concurrent pathologic specimens from biopsy/excision of 27 distinct lesions (mean age 14.9 years). Pathologic interpretation of these specimens revealed plexiform and atypical plexiform neurofibromas (n = 8 each), low grade MPNST (n = 2), intermediate grade MPNST (n = 4), high grade MPNST (n = 2), GIST (n = 1) and non-ossifying fibroma (n = 1). SUV_max of plexiform neurofibromas (including typical and atypical) was significantly different from MPNST (2.49 (SD = 1.50) vs. 7.63 (SD = 2.96), p < 0.001). A cutoff SUV_max value of 4.0 had high sensitivity and specificity of 1.0 and 0.94 to distinguish between PN and MPNST. FDG-PET can be helpful in predicting malignant transformation in children with plexiform neurofibromas and determining the need for biopsy and/or surgical resection.