骨髓增生异常综合症
国际预后积分系统
医学
发育不良
内科学
等位基因
肿瘤科
遗传学
生物
基因
骨髓
作者
L Liu,Bing Li,Bing Li,Zefeng Xu,Zefeng Xu,Tiejun Qin,Yujiao Jia,Shiqiang Qu,Shiqiang Qu,Yudi Zhang,Juan Wu,Wenyu Cai,Lijuan Pan,Qingyan Gao,Meng Jiao,Zhijian Xiao,Zhijian Xiao,Zhijian Xiao
摘要
Summary The criteria of myelodysplastic syndromes (MDS) with mutated SFB31 (MDS‐ SFB31 ) proposed by the 5th edition of the WHO classification (WHO 2022) and the International Consensus Classification (ICC) need validation. We analysed 125 consecutive MDS cases with SFB31 mutation or ring sideroblasts (RS) ≥15% without excess blasts. We found that SFB31 ‐negative MDS with RS had significantly different clinical features and worse prognosis. According to WHO 2022, the detection of ≥15% RS may substitute for SF3B1 mutation and our analyses support this proposal for similar prognosis of two groups after excluding high‐risk genetic features referred by WHO 2022. Patients with variant allele frequency (VAF) <10% SFB31 tend to have briefer survival, supporting the VAF 10% threshold of ICC. Patients with multilineage dysplasia (MLD) had significantly shorter OS than those with single lineage dysplasia. MLD is still a powerful morphological marker of worse outcome in WHO 2022 and ICC‐defined MDS‐ SF3B1 .
科研通智能强力驱动
Strongly Powered by AbleSci AI