A mechanistic classification of clinical phenotypes in neuroblastoma (TERT expression threshold cohort)

Our study proposes a precise mechanistic classification of clinical neuroblastoma phenotypes that is based on telomere maintenance mechanisms and RAS or p53 pathway mutations. A crucial factor in telomere maintenance is overexpression of TERT. We therefore determined a TERT expression threshold to identify MYCNWT TERTWT tumors whose TERT mRNA levels are comparable to those of tumors bearing MYCN or TERT alterations. Single-color gene expression profiles from 186 neuroblastoma tumors were generated using 44K oligonucleotide microarrays. Stages were classified according to the International Neuroblastoma Staging System.

本研究提出了一种基于端粒维持机制、RAS或p53通路突变的临床神经母细胞瘤表型精准机制分型方法。端粒维持的关键因素之一是端粒酶逆转录酶（TERT）的过表达，因此我们确定了TERT表达阈值，用于甄别TERT信使RNA（mRNA）水平与携带MYCN或TERT变异的肿瘤相当的MYCN野生型（MYCNWT）、TERT野生型（TERTWT）肿瘤。本研究采用44K寡核苷酸微阵列技术，生成了186例神经母细胞瘤肿瘤的单色基因表达谱；肿瘤分期依据国际神经母细胞瘤分期系统（INSS）进行划分。