How to minimise the effect of tumour cell content in detection of aberrant genetic markers in neuroblastoma.

ABSTRACT

BACKGROUND: Clinical heterogeneity reflects the complexity of genetic events associated with neuroblastoma (NB). To identify the status of all described genetic loci with possible prognostic interest, high-throughput approaches have been used, but only with tumour cell content >60%. In some tumours, necrotic, haemorrhagic and/or calcification areas influence the low amount of neuroblasts. We evaluated the effect of tumour cell content in the detection of relevant aberrant genetic markers (AGM) diagnosed by fluorescence in situ hybridisation (FISH) on tissue microarrays (TMA) in NB. METHODS: Two hundred and thirty-three MYCN non-amplified primary NB included in 12 TMAs were analysed. RESULTS: Presence of AGM reduced event-free survival (EFS) (P=0.004) as well as overall survival (OS) (P=0.004) of patients in the whole cohort. There were no differences in prognostic impact of presence of AGM according to tumour cell content. CONCLUSION: We propose the use of FISH to diagnose AGM of all NB samples having the above-mentioned areas to determine patient risk.