The utility of next-generation sequencing in diagnosis and monitoring of acute myeloid leukemia and myelodysplastic syndromes

摘要: Myeloid malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are a heterogeneous group of disorders that share common biology major source morbidity mortality. In the last several years, studies using next-generation sequencing (NGS) have identified core set recurrently mutated malignancy genes in majority patients with AML MDS, those normal cytogenetics. DNA-level mutations these NPM1, FLT3, CEBPA ASXL1, ETV6, EZH2, RUNX1, TP53 MDS associated changes patient outcomes now tested for clinical laboratories. addition to providing prognostic information, gene can be used monitor disease burden through use ultrasensitive detection techniques. this review, we will focus on utility various NGS-based methods whole-genome sequencing, exome targeted panel-based initial diagnosis management cover recent methodological advances molecular monitoring MDS.