Multimodality Imaging for Malignant Transformation Assessment in Neurofibromatosis Type 1

Neurofibromatosis is a common autosomal dominant neurocutaneous disorder. It is also defined as a RASopathy (developmental syndromes caused by germ line mutations in genes that alter the Ras subfamily and Mitogen activated protein kinases that control signal transduction). It has an incidence of 1:3000 live births and has variable expressivity [1]. Half of the cases of NF demonstrate de novo mutations and it has equal male to female preponderance. It has two types: NF1, which is characterized by neurofibromas, which may induce compressive symptoms and have the tendency to undergo malignant transformation into malignant peripheral nerve sheath tumors (MPNST). NF2 manifests with bilateral acoustic neuromas, which may lead to hearing loss [1]. Patients typically have multiple inherited schwannomas, meningiomas, and ependymomas.