文章：

慢性期慢性髓性白血病中ASXL1突变的预后影响

Prognostic impact of ASXL1 mutations in chronic phase chronic myeloid leukemia

原文发布日期：2022-10-28

DOI: 10.1038/s41408-022-00742-1

类型: Article

开放获取: 是

英文摘要：

While the clinical impact of mutations in the ABL1 gene on response to therapy in chronic phase chronic myeloid leukemia (CP-CML) is well established, less is known about how other mutations affect prognosis. In a retrospective analysis, we identified 115 patients with CML (71 chronic, 15 accelerated and 29 blast phase) where targeted next-generation sequencing of genes recurrently mutated in myeloid leukemias was performed. ASXL1 was the most frequently mutated gene in the chronic (14%) and accelerated phase (40%) CML patients, whereas RUNX1 (20%) was the most common mutation in blast phase. Compared with wild-type ASXL1, CP-CML with mutant ASXL1 was associated with worse event-free survival (EFS) (median of 32.8 vs 88.3 months; P = 0.002) and failure-free survival (median of 13.8 vs 57.8 months; P = 0.04). In a multivariate analysis, ASXL1 mutation was the only independent risk factor associated with worse EFS in chronic phase CML with a hazard ratio of 4.25 (95% CI 1.59–11.35, P = 0.004). In conclusion, mutations in ASXL1 are associated with worse outcomes when detected in chronic phase CML.
 

摘要翻译： 

尽管ABL1基因突变对慢性期慢性髓系白血病（CP-CML）治疗反应的临床影响已明确，但其他突变如何影响预后尚知之甚少。在一项回顾性分析中，我们纳入了115例CML患者（71例慢性期、15例加速期和29例急变期），并对其进行了髓系白血病常见突变基因的靶向二代测序。ASXL1是慢性期（14%）和加速期（40%）CML患者中最常见的突变基因，而急变期中最常见的突变是RUNX1（20%）。与野生型ASXL1相比，携带ASXL1突变的CP-CML患者无事件生存期（中位数32.8个月 vs 88.3个月；P=0.002）和无失败生存期（中位数13.8个月 vs 57.8个月；P=0.04）更差。在多变量分析中，ASXL1突变是慢性期CML患者无事件生存期恶化的唯一独立危险因素，风险比为4.25（95% CI 1.59-11.35，P=0.004）。总之，在慢性期CML中检测到ASXL1突变与更差的预后相关。

原文链接：

Prognostic impact of ASXL1 mutations in chronic phase chronic myeloid leukemia