A mechanistic classification of clinical phenotypes in neuroblastoma

TLDR

Neuroblastoma is the most common infant tumor, arising from fetal nerve cells, and its clinical course ranges from fatal to spontaneous regression. The study sequenced over 400 pretreatment neuroblastomas to identify molecular features distinguishing three clinical outcome groups. Low‑risk tumors lack telomere maintenance mechanisms, intermediate‑risk tumors possess them, and high‑risk tumors combine telomere maintenance with RAS or p53 pathway mutations. Published in Science, p.

Abstract

A systematic look at a childhood tumor Neuroblastomas—the most common tumor type in infants—develop from fetal nerve cells, and their clinical course is highly variable. Some neuroblastomas are fatal despite treatment, whereas others respond well to treatment and some undergo spontaneous regression without treatment. Ackermann et al. sequenced more than 400 pretreatment neuroblastomas and identified molecular features that characterize the three distinct clinical outcomes. Low-risk tumors lack telomere maintenance mechanisms, intermediate-risk tumors harbor telomere maintenance mechanisms, and high-risk tumors harbor telomere maintenance mechanisms in combination with RAS and/or p53 pathway mutations. Science , this issue p. 1165