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 mutationsin 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. Half of the cases of NF demonstrate de novo mutations and it has equal male to female preponderance.

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