Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations

TF Eleveld, DA Oldridge, V Bernard, J Koster… - Nature …, 2015 - nature.com
TF Eleveld, DA Oldridge, V Bernard, J Koster, LC Daage, SJ Diskin, L Schild, NB Bentahar…
Nature genetics, 2015nature.com
The majority of patients with neuroblastoma have tumors that initially respond to
chemotherapy, but a large proportion will experience therapy-resistant relapses. The
molecular basis of this aggressive phenotype is unknown. Whole-genome sequencing of 23
paired diagnostic and relapse neuroblastomas showed clonal evolution from the diagnostic
tumor, with a median of 29 somatic mutations unique to the relapse sample. Eighteen of the
23 relapse tumors (78%) showed mutations predicted to activate the RAS-MAPK pathway …
Abstract
The majority of patients with neuroblastoma have tumors that initially respond to chemotherapy, but a large proportion will experience therapy-resistant relapses. The molecular basis of this aggressive phenotype is unknown. Whole-genome sequencing of 23 paired diagnostic and relapse neuroblastomas showed clonal evolution from the diagnostic tumor, with a median of 29 somatic mutations unique to the relapse sample. Eighteen of the 23 relapse tumors (78%) showed mutations predicted to activate the RAS-MAPK pathway. Seven of these events were detected only in the relapse tumor, whereas the others showed clonal enrichment. In neuroblastoma cell lines, we also detected a high frequency of activating mutations in the RAS-MAPK pathway (11/18; 61%), and these lesions predicted sensitivity to MEK inhibition in vitro and in vivo. Our findings provide a rationale for genetic characterization of relapse neuroblastomas and show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease.
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