Abstract
BackgroundMalignant peripheral nerve sheath tumours (MPNST) are known to develop in patients with Neurofibromatosis type I (NF1) resulting in a decreased overall survival. The association between NF1 and the development of such MPNST has been investigated in detail. The biological behaviour however of multiple disseminated neurofibromas in patients with NF1 and the risk factors for malignant transformation remain unknown. Clinical signs are unreliable and additional imaging techniques are therefore required. Of such, positron emission tomography using [18F]-2-fluoro-2-deoxy-D-glucose (18FDG PET) is used to detect malignant changes in neurofibromas.Case presentationA case is presented of a patient suffering from NF1 with clinical signs of malignant change and accumulation of 18FDG in multiple neurofibromas. Histopathological examination of 20 lesions however, did not reveal any malignant features. There was no statistically significant relation between18FDG accumulation and malignant change, but rather with pain, size and growth.ConclusionThis case adds to the knowledge of the diverse biological behaviour of neurofibromas in patients with NF1
Highlights
Malignant peripheral nerve sheath tumours (MPNST) are known to develop in patients with Neurofibromatosis type I (NF1) resulting in a decreased overall survival
6 were plexiform neurofibroma's and the remainder of the lesions were either cutaneous or subcutaneous according to Riccardi [14]
The patient was diagnosed with neurofibromatosis and had clinical signs suspected for malignant transformation
Summary
Malignant peripheral nerve sheath tumours (MPNST) are known to develop in patients with Neurofibromatosis type I (NF1) resulting in a decreased overall survival. The biological behaviour of multiple disseminated neurofibromas in patients with NF1 and the risk factors for malignant transformation remain unknown. Positron emission tomography using [18F]-2-fluoro-2-deoxy-D-glucose (18FDG PET) is used to detect malignant changes in neurofibromas. Case presentation: A case is presented of a patient suffering from NF1 with clinical signs of malignant change and accumulation of 18FDG in multiple neurofibromas. Patients with NF1 have a decreased overall survival due to the development of malignant peripheral nerve sheath tumours (MPNST). MPNST arise from plexiform neurofibromas in approximately 10% of the patients [3,3,5,6,7].
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