According to a study carried out by the Washington University School of Medicine, the frequency of brain tumours in children with common genetic syndrome neurofibromatosis type 1 (NF1) is more than three times higher than it was previously thought.
The genetic condition NF1 has an incidence of approximately 1 in 3000 individuals. It is characterized by birthmarks and known to cause non-cancerous tumours to grow on nerve tissue.
Brain tumours are also known to appear in patients with NF1, with around 15-20 percent of children with the syndrome developing low-grade brain tumours. Of these tumours, the majority occur within the optic nerve or the brainstem.
Brain scans of paediatric patients with NF1 often show bright spots, which prove to be difficult for doctors to distinguish as tumour from those that are presumably harmless.
The researchers at Washington University examined MRI scans of children with NF1 (also analysing scans of adult NF1 patients and of children without NF1 for comparison) and then compared them with biopsy results.
Out of the 10 children whose bright spots were presumed to be tumours and who underwent biopsies, all 10 were proven to be brain tumours.
The main outcome of the study, published in the journal Neurology: Clinical Practice, is that more attention needs to paid to children with NF1 and that brain tumours in NF1 patients are not as rare as previously thought. Doctors who work with NF1 patients need to be aware of the connection and accurately interpret MRI scans in order to better decide who requires further medical surveillance.
Our Centre of Excellence at University of Plymouth is the leading European research institution for low-grade brain tumours. Professor Oliver Hanemann and his team are setting the international standard for biomarker development in neurofibromatosis, meaning that they are identifying the key genetic characteristics of the brain tumours that develop as part of this condition.