A personalized prognostic model that takes into account the unique molecular features of primary myelodysplastic neoplasm (MDS) in Asia patients is lacking. Diagnostic clinicopathologic features, cytogenetic changes, and gene mutations of ethnic Asian patients with primary MDS were analyzed. Variables were evaluated for associations with overall survival (OS), leukemia-free survival (LFS), and time to progression to secondary AML (TTP-sAML). Prognostic scores were built as a weighted sum of prognostic variables for each patient. The cohort comprised 1225 patients, with at least one gene mutation identified in 1177 patients (96%). Genomic factors associated with inferior outcomes included monosomy 7, del(5q), and GNAS and TP53 mutations for OS; trisomy 19, del(5q), monosomy 7, and GNAS, PTPN11 and TP53 mutations for LFS; and i(17q), del(5q), and NPM1, NRAS, GNAS, IDH2, SF3B1 and RUNX1 mutations for TTP-sAML. The Asian Prognostic Scoring System (APSS) was determined, stratifying patients into six prognostic risk categories. The APSS, compared with the International Prognostic Scoring System molecular (IPSS-M), showed superior concordance indices (C-indices) for OS (0.73 versus 0.57), LFS (0.72 versus 0.59), and TTP-sAML (0.75 versus 0.65) for this Asian cohort. In conclusion, the APSS enhanced prognostication of primary MDS in Asia.
目前缺乏针对亚洲原发性骨髓增生异常肿瘤（MDS）患者独特分子特征的个性化预后模型。本研究分析了亚洲原发性MDS患者的诊断临床病理特征、细胞遗传学改变及基因突变，评估了各项变量与总生存期（OS）、无白血病生存期（LFS）及进展为继发性急性髓系白血病时间（TTP-sAML）的关联性。通过加权汇总每位患者的预后变量构建预后评分系统。该队列共纳入1225例患者，其中1177例（96%）至少存在一种基因突变。基因组学因素中与不良预后相关的包括：对OS不利的7号染色体单体、5q缺失以及GNAS和TP53突变；对LFS不利的19号染色体三体、5q缺失、7号染色体单体以及GNAS、PTPN11和TP53突变；对TTP-sAML不利的i(17q)、5q缺失以及NPM1、NRAS、GNAS、IDH2、SF3B1和RUNX1突变。本研究建立了亚洲预后评分系统（APSS），将患者分为六个预后风险等级。与国际预后评分系统分子版（IPSS-M）相比，APSS在该亚洲队列中显示出更优的一致性指数：OS（0.73对比0.57）、LFS（0.72对比0.59）及TTP-sAML（0.75对比0.65）。综上所述，APSS体系显著提升了亚洲原发性MDS的预后评估效能。
A clinico-genomic prognostic model for primary myelodysplastic neoplasm in Asia
肿瘤(癌症)患者之家