下一代测序（NGS）的出现目前正在引领急性髓系白血病（AML）的诊断及其使用更加基因水平的方法的治疗。该研究旨在利用NGS寻找韩国AML患者基因组突变谱的临床和预后相关性。这项回顾性研究共纳入了2021年2月至2022年10月韩国新诊断为AML的30名患者。 NGS 用于鉴定 40 个与 AML 相关的基因的遗传图谱。对患者的临床和实验室数据进行基因组突变谱分析。NGS 显示所有患者至少有一种突变，范围为 1 到 7 个突变（3 个突变的中位数）。突变通常与 TET2、CEBPA、RUNX1、FLT3、IDH2、NPM1 和 SRSF2 基因相关。 TET2 突变与老年患者（77 比 72）相关，FLT3 突变与较高的 WBC 计数相关（33.4 x 109/L 比 6.4 x 109/L）。 RUNX1 突变与较低的血小板计数（44.0 x 109/L vs. 65.5 x 109/L）相关，NPM1 突变显示外周血中原始细胞数量较高（56.5% vs. 13.0%）。在16名接受诱导化疗的患者中，仅在未能达到完全缓解（CR）的患者中检测到SRSF2、ASXL1、PHF6、SF3B1和PTPN11突变。同时，在达到 CR 的患者中检测到 NRAS、TP53、IKZF1、DNMT3A、SH2B3、U2AF1 和 WT1 突变。根据韩国 AML 患者中 NGS 检测的基因组突变谱，观察临床和预后相关性。对更多患者进行 NGS 研究将有助于确定对 AML 患者的显着预后影响。

The emergence of next-generation sequencing (NGS) is currently leading the diagnosis of acute myeloid leukemia (AML) and its treatment using a more genetic-level approach. The study aimed to find clinical and prognostic correlations with genomic mutation profiles in Korean patients with AML using NGS.This retrospective study enrolled a total of 30 patients who were newly diagnosed with AML from February 2021 to October 2022 in Korea. NGS was used to identify the genetic profiles of 40 genes relevant to AML. The clinical and laboratory data of the patients were analyzed with their genomic mutation profiles.NGS revealed at least one mutation in all patients, with a range of one to seven mutations (median of three mutations). Mutations were commonly associated with TET2, CEBPA, RUNX1, FLT3, IDH2, NPM1, and SRSF2 genes. The TET2 mutation correlated with older (77 vs. 72) patients, and the FLT3 mutation was associated with a higher WBC count (33.4 x 109/L vs. 6.4 x 109/L). The RUNX1 mutation correlated with a lower (44.0 x 109/L vs. 65.5 x 109/L) platelet count, and the NPM1 mutation showed a higher number of blasts in peripheral blood (56.5% vs. 13.0%). Among 16 patients who received induction chemotherapy, mutations in SRSF2, ASXL1, PHF6, SF3B1, and PTPN11 were detected only in patients who failed to achieve complete remission (CR). Meanwhile, mutations in NRAS, TP53, IKZF1, DNMT3A, SH2B3, U2AF1, and WT1 were detected in patients who achieved CR.Clinical and prognostic correlations were observed according to genomic mutation profiles detected by NGS in Korean patients with AML. An NGS study with a larger cohort of patients would be beneficial to establish the significant prognostic impact on patients with AML.