Contribution of DNA methylation profiling in the classification of TRIO::TERT sarcomas

DNA methylation profiling has emerged as a valuable tool for tumor classification, exemplified by the German Cancer Research Center's creation of online classifiers for CNS tumors and sarcomas. Identification of rare molecular events, such as TRIO::TERT fusion in undifferentiated sarcomas, through DNA methylation profiling and transcriptome analysis aims to define distinct molecular subgroups within sarcomas of uncertain diagnosis, potentially improving classification and treatment strategies.In this study, we present 8 cases of sarcomas characterized by TRIO::TERT fusion, establishing it as a distinct molecular subtype of sarcomas. This fusion represents a consistent molecular feature across all analyzed tumors, suggesting its pivotal role in sarcomatogenesis. Identifying TRIO::TERT transcript sarcoma as a new tumor type may enhance diagnostic strategies for improved patient management. screening of 5 cases of TRIO-TERT sarcoma by SNP array with affymetrix platform

DNA甲基化谱分析（DNA methylation profiling）已成为肿瘤分类的重要工具，其中德国癌症研究中心（German Cancer Research Center）开发的中枢神经系统（Central Nervous System, CNS）肿瘤与肉瘤在线分类器即为典型范例。通过DNA甲基化谱分析与转录组分析（transcriptome analysis），识别未分化肉瘤中的TRIO::TERT融合（TRIO::TERT fusion）等罕见分子事件，以明确诊断不明肉瘤内的独特分子亚群，有望优化肿瘤分类与治疗策略。本研究报道8例携带TRIO::TERT融合的肉瘤，证实该融合为肉瘤的一种独特分子亚型。该融合在所有分析的肿瘤中均为稳定存在的分子特征，提示其在肉瘤发生（sarcomatogenesis）过程中发挥关键作用。将TRIO::TERT融合肉瘤认定为新型肿瘤类型，有助于优化诊断策略以改善患者管理。本研究采用Affymetrix平台的单核苷酸多态性阵列（Single Nucleotide Polymorphism array, SNP array）筛选了5例TRIO-TERT融合肉瘤病例。