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Updated: Jul 10, 2026
Anti-Nuclear Antibody Screening Using HEp-2 Cells
Published on: June 23, 2014
The correlation between clinical, nuclear and histologic findings in a patient with Von Recklinghausen's disease
Justus-Martijn Brinkman1, Johannes L Bron, Paul Ijm Wuisman
1Department of Nuclear Medicine & PET Research, VU University Medical Center, Amsterdam, The Netherlands. cfm.molthoff@vumc.nl.
Background:
Malignant 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 Presentation:
A 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.
Conclusion:
This case adds to the knowledge of the diverse biological behaviour of neurofibromas in patients with NF1.
