Value of whole body MRI in patients with NF1

Abstract

Three studies were carried out to define the value of whole body magnetic resonance imaging (MRI) of patients with neurofibromatosis type 1 for assessing internal tumors. In a first study, 36 out of 65 children with NF1 (55 %) were found to have age-related PNF manifestations and associated clinical deficits. These children are suggested to be a clinical risk group in relation to tumor-associated problems and should therefore undergo regular MRI monitoring to optimize treatment and management. In a second study, whole body MRI data of 13 NF1-malignant peripheral nerve sheath tumor (NF1-MPNST) patients were compared to 26 age- and sex-matched NF1 controls. NF1-MPNST patients (<30 years) had a significantly higher internal tumor burden. Assessment of the whole body internal tumor burden, especially of young NF1 patients, may allow the identification of those at highest risk for developing MPNSTs early in life. A third study compared 30 NF1 microdeletion patients who underwent whole body MRI to 114 age- and sex-matched non-deletion patients. Microdeletions were found to have a nonsignificant tendency to be associated with a higher internal tumor burden compared to non-deletion patients. Despite this finding, microdeletion patients with a high internal tumor burden should undergo follow-up whole body examination.