About:

There is a lifetime risk of plexiform neurofibromas developing into MPNSTs and the current method for detecting transformation is limited in that there is an overlap in the values the testing produces for malignant and non-malignant tumours. Recent studies have revealed that collecting plasma, which contains cell-free DNA (cfDNA), is useful in detecting and classifying tumours.

This study aims to build a biobank of cfDNA to further research and determine the efficacy of this technique in NF1 tumour transformation. Plasma samples will be collected every 6-12 months from children over the age of 16 years with a diagnosis of NF1. Later, once they are transitioned across to RMH this sample collection will continue. 

These samples will then be stored for future analysis and comparison with tumour tissue for any of those children who do go on to develop an MPNST.