Improving our understanding of the genetics of neuroblastoma

Neuroblastoma is the most common childhood solid tumour outside of the brain. New treatments and a better understanding of drug resistance are needed to improve survival. Circulating tumour cells (CTCs) may provide a source of tumour cells for genetic studies, give insights into tumour size and serve as biomarkers to test the effectiveness of new treatments.

Over the past 18 months we have detected neuroblastoma CTCs and Disseminated Tumour Cells (DTCs) from bone marrow. Using CTCs & DTCs for genetic characterisation may remove the need for tumour biopsy especially in cases where this is hazardous to the patient.

This study aims to undertake genetic studies on CTCs from blood and disseminated tumour cells (DTC) from bone marrow from neuroblastoma patients to isolate single CTCs and DTCs for in depth genetic characterisation including next generation sequencing.

These studies will extend our knowledge of genetic difference in tumour cells by comparing primary tumour genetics with CTCs and DTCs, since the latter may be important in determining response to treatment and may shed light on why patients relapse. In depth genetic characterisation of DTCs and especially CTCs provides a non-invasive method of tumour biopsy, so called “liquid biopsy” particularly in patients in whom biopsy of the main tumour or even bone marrow may be hazardous.