In collaboration with: Ellen van der Schoot (Sanquin)
Diagnosis of neuroblastoma is historically done by histological and molecular profiling of the biopsy of the primary tumour. However, tissue analysis provides only a snapshot of the sampled part of the tumour, disregarding the spacial heterogeneity within the tumour or between the primary leasion and its metastases. In my projects we investigate liquid biopsies in neuroblastoma tumours, focussing on the diagnostic use of tumour-mRNA in bone marrow and peripheral blood for diagnosis, staging and risk group allocation. Furthermore, tumour-driving genetic abberations in neuroblastoma tumours are mostly highly patient-specific large structural variants. Within my PhD we investigate the use of cell free DNA in patient-specific assays for tumour detecion, reponse evaluation and early recurrence detection compared to other diagnostic techniques.