Discovery of new fusion transcripts in a cohort of pediatric solid cancers at relapse

This study aims to dissect further the complexity of fusion landscape in recurrent pediatric cancers. A retrospective study on RNA-sequencing data of 48 pediatric patients at relapse with different malignancies was conducted in order to detect and validate several fusions and predict their probable oncogenic potential and targetability. We obtained a high validation rate of 90% of selected candidates which will serve both clinical and research needs to detect and prioritize experimental validation studies leading to the development of new therapeutic options.EGA study EGAS00001003236

本研究旨在进一步剖析复发性儿童癌症的融合变异谱复杂性。本研究针对48例伴不同恶性肿瘤的复发期儿童患者的RNA测序（RNA-sequencing）数据开展回顾性研究，以检测并验证多种融合变异，并预测其潜在致癌潜能与可靶向性。本研究对筛选出的候选融合变异实现了90%的验证成功率，该成果可满足临床与科研需求，助力检测并优先推进实验验证研究，进而推动新型治疗方案的开发。本研究为EGA研究EGAS00001003236