The mutational landscape and survival of myelofibrosis patients in Taiwan

With the advent of next-generation sequencing (NGS) and its wide application in mutation detection in myeloid malignancies, high-risk gene mutations were incorporated in novel prognostic models, including Mutation-Enhanced IPSS 70 (MIPSS70), MIPSS70 plus version 2.0, and Genetically Inspired Prognostic Scoring System (GIPSS). These novel prognostic models applied not only traditional clinical parameters and cytogenetics, but also mutation statuses, underscoring the independent prognostic contribution of the driver and high-molecular risk mutations. In this study, we adopted NGS to delineate the mutational landscape of patients with myelofibrosis in Taiwan and its prognostic impication.<br>

伴随下一代测序（next-generation sequencing, NGS）技术的诞生及其在髓系恶性肿瘤突变检测领域的广泛应用，高危基因突变被纳入多款新型预后模型，其中包括突变强化型IPSS 70（Mutation-Enhanced IPSS 70, MIPSS70）、MIPSS70 plus版本2.0以及遗传导向型预后评分系统（Genetically Inspired Prognostic Scoring System, GIPSS）。此类新型预后模型不仅纳入传统临床参数与细胞遗传学特征，还整合了突变状态信息，凸显了驱动突变与高危分子突变的独立预后价值。本研究采用NGS技术，描绘了中国台湾地区骨髓纤维化患者的突变谱，并分析了其预后意义。