High-throughput sequencing of miRNA of cartilage tumors

In this study, a series of 102 cartilage tumors was used to uncover the molecular diversity of chondrosarcomas through the profiling of mRNA, miRNA, DNA methylation, DNA copy number aberrations and point mutations. An integrated classification using multiple molecular dimensions revealed three major molecular features unraveling the diversity in clinical outcome of chondrosarcoma: a high mitotic state, regional 14q32 loss of expression and IDH mutations leading to genome-wide hypermethylation. These three robust and simple molecular features classify chondrosarcoma in subtypes with superior clinical value as compared to the current grading system.

本研究以102例软骨肿瘤为研究对象，通过对mRNA、微小RNA（miRNA）、DNA甲基化、DNA拷贝数变异及点突变开展分子谱分析，解析软骨肉瘤的分子多样性。本研究通过整合多分子维度数据构建分类模型，揭示出三类主导软骨肉瘤临床结局多样性的核心分子特征：高增殖状态、14q32区域表达缺失，以及引发全基因组高甲基化的异柠檬酸脱氢酶（IDH）突变。相较于当前临床分级系统，这三个简洁且稳定的分子特征可将软骨肉瘤划分为不同亚型，且具备更优异的临床应用价值。