Only a few genes are recurrently mutated in patients with neuroblastoma. In a new study, whole-genome sequencing was used to analyse tumour samples from 39 patients with high-risk neuroblastoma and 17 patients with low-risk neuroblastoma. Rearrangements affecting the telomerase reverse transcriptase (TERT) gene were found in 31% of patients with high-risk neuroblastoma, but not in patients with low-risk disease. These results were confirmed in an additional cohort (n = 75 high-risk; n = 86 low-risk).
References
Peifer, M. et al. Telomerase activation by genomic rearrangements in high-risk neuroblastoma. Nature 526, 700–704 (2015)
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Romero, D. TERT alterations define high-risk neuroblastoma. Nat Rev Clin Oncol 13, 2 (2016). https://doi.org/10.1038/nrclinonc.2015.196
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DOI: https://doi.org/10.1038/nrclinonc.2015.196
