Relevance of mutational patterns in the prognosis and treatment-outcome in acute myeloid leukemia (AML)

For the treatment of AML, the main regime relies on intensive induction chemotherapy. About 60 - 85% cases under age 60 years respond completely to the initial induction, whereas, in the patients above 60 years, the response rate is 40 - 60%. Despite this response rate, resistance to the induction therapy and relapse of AML are frequently observed, and have been reported in up to 50% patients of <60 years age, and 80% patients of >80 years age. In this study, the investigation of multiple genetic markers (point mutations analysis, clonal evolution, mutational signatures etc.) will be carried out through the next generation DNA sequencing at initial diagnosis to decipher a link between genetic aberrations observed at initial diagnosis and relapse.

针对急性髓系白血病（Acute Myeloid Leukemia，AML）的治疗，当前主流方案依赖强化诱导化疗。年龄低于60岁的患者中，约60%~85%可对初始诱导治疗产生完全应答；而60岁以上患者的应答率仅为40%~60%。尽管存在上述应答率，但诱导治疗耐药与AML复发仍频繁发生，据报道，年龄小于60岁的患者中此类情况占比可达50%，80岁以上患者中则高达80%。本研究将在患者初诊阶段，通过下一代DNA测序（next generation DNA sequencing）对多种遗传标志物（包括点突变分析、克隆演化、突变特征等）开展检测，以阐明初诊时检出的遗传畸变与疾病复发之间的潜在关联。