Distinguishing atypical focal areas of signal intensity from probable low-grade gliomas in the posterior fossa of children with neurofibromatosis type 1.

Introduction: Focal areas of signal intensity (FASI) in the posterior fossa are common in children with neurofibromatosis type 1 (NF1). These can be difficult to distinguish from tumour processes when they are atypical. This study aimed to describe the initial radiological features of atypical posterior fossa FASI, depending on the clinical and radiological evolution of the lesion.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.

Background: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene , which encodes neurofibromin, a negative regulator of rat sarcoma proteins. NF1 is an autosomal dominant disorder with complete penetrance, but a highly variable expression.