Potential clinical role of FDG-PET in detecting sarcomatous transformation in von Recklinghausen's Disease: a case study and review of the literature

Background The diagnosis of sarcomatous transformation of plexiform neurofibromas in Neurofibromatosis-1 (NF 1) is a clinical and radiological challenge. Considerable overlap exists in the clinical and the radiological characteristics between the benign enlarging neurofibromas and their counterparts undergoing malignant changes. Surgical biopsy to rule out suspicious malignant transformation is often a problem in deep seated lesions. Methods We, in this paper, explore the clinical utility of FDG-PET in detecting and assessing this life threatening complication of neurofibromas. A case is described with FDG-PET and MRI documentation of such transformation and subsequent histopathological correlation. The case upholds the potential advantages of a FDG-PET over the conventional imaging modalities. A review of the existing literature is also carried out; a total of four published reports on this issue were identified in English literature by searches of Pubmed. Results and conclusion FDG-PET appeared a reliable as well as sensitive noninvasive technique that might minimize unnecessary deep surgical biopsy to rule out malignant transformation in cases of NF-1 with features of enlargement of a preexisting peripheral nerve sheath tumour, pain or neurodeficit.