Shanxi Medical University, Taiyuan, China.
Institute of Hematology, The Second Hospital of Shanxi Medical University, China.
Leuk Lymphoma. 2022 Oct;63(10):2321-2329. doi: 10.1080/10428194.2022.2081323. Epub 2022 Jun 2.
We analyzed 156 adult patients with primary cytogenetically normal AML for ASXL1 mutations and co-mutations using targeted next-generation sequencing with a panel of 34 genes associated with myeloid neoplasms. ASXL1 were identified in 15(10%) patients, more frequent at an older age (≥60years) ( = .014), and had significant associations with co-mutations in TET2, KIT, CBL and SRSF2, whereas inversely correlated to NPM1 and CEBPA mutations. ASXL1 clustered in ELN2017 intermediate-risk group ( = .028). In the context of intermediate-risk, ASXL1 had a worse overall survival(OS) ( = .038) and Relapse-free survival(RFS) ( = .016) than ASXL1. When coexisting DNMT3A or TET2 mutations, ASXL1/DNMT3A genetype revealed a superior OS than ASXL1/DNMT3A ( = .027), and ASXL1/TET2 confered a worse RFS than ASXL1/TET2 ( = .031). No significant prognosis impact of VAF (a cutoff value of 30%) and clone ranks of ASXL1 were observed in this corhort. Our study provided a new understanding of characteristics of ASXL1 AML.
我们分析了 156 例原发性细胞遗传学正常 AML 成年患者的 ASXL1 突变和共突变，使用靶向下一代测序，对与髓系肿瘤相关的 34 个基因进行了分析。在 15 例（10%）患者中发现了 ASXL1，在年龄较大（≥60 岁）的患者中更为常见（=0.014），与 TET2、KIT、CBL 和 SRSF2 的共突变有显著关联，而与 NPM1 和 CEBPA 突变呈负相关。ASXL1 在 ELN2017 中等风险组中聚集（=0.028）。在中等风险的情况下，ASXL1 的总生存期（OS）（=0.038）和无复发生存期（RFS）（=0.016）均比 ASXL1 差。当共存 DNMT3A 或 TET2 突变时，ASXL1/DNMT3A 基因型比 ASXL1/DNMT3A 具有更好的 OS（=0.027），而 ASXL1/TET2 则比 ASXL1/TET2 具有更差的 RFS（=0.031）。在这个队列中，未观察到 VAF（截断值为 30%）和 ASXL1 克隆等级对预后的显著影响。我们的研究为 ASXL1 AML 的特征提供了新的认识。
