An NGS based MRD evaluation from acute myeloid leukemia patients.

Introduction: Measurable residual disease (MRD) is a prognostic factor for acute myeloid leukemia (AML). A next‐generation sequencing (NGS) based MRD panel was developed and the results were validated. Methods: The NGS sequencing data was collected from 1003 Chinese AML patients. Results: The sequencing data from 586 newly diagnosed AML patients showed that NRAS mutation was most common (20.8%), followed by NPM1 (19.4%), FLT3‐ITD (18.5%), and DNMT3A (15.4%). NPM1 and FLT3‐ITD mutations were less in Chinese than in Caucasian AML patients, and the result of KRAS mutation was opposite. A new panel named "AML NGS‐MRD hot‐spot panel" was designed, containing 178 hot‐spot exons from 52 mutated genes and only 62.8 Kb in size. With this hot‐spot panel, 92.5% newly diagnosed AML patients were found to carry ≥1 mutations. To verify the performance of this panel, additional 205 newly diagnosed AML patients and 212 post‐treatment AML patients were evaluated, and the hot‐spot panel achieved a similar detection rate (91.2% for newly diagnosed AML patients and 89.2% for post‐treatment AML patients). Finally, this study found that the mutation frequencies of signaling pathway genes (e.g., KRAS, NRAS, FLT3‐ITD, KIT) were significantly reduced in post‐treatment AML. Conclusion: The "AML NGS‐MRD hot‐spot panel" detected the mutations from relapsed AML patients with minimal panel size, and was a reliable and cost‐effective panel for AML patients. [ABSTRACT FROM AUTHOR]