Advancing leukemia diagnostics: Role of Next Generation Sequencing (NGS) in acute myeloid leukemia

Abstract

AML diagnostics, initially based solely on morphological evaluation, now relies on multiple disciplines to reach its full potential. Only by integrating the results of cytomorphology, cytochemistry, immunophenotyping, cytogenetics and molecular genetics it is possible to fulfil WHO classification and ELN prognostication systems. Especially molecular genetics has gained a lot of interest over the last decade, mainly through the introduction of next generation sequencing (NGS). NGS application ranges from the investigation of single genes and panels to even whole exomes, transcriptomes and genomes. In routine AML diagnostics panels are the preferred NGS methodology. Here, we will review the power and limitations of NGS in the context of diagnosis, prognosis and precision medicine. Due to high dimensionality, NGS data interpretation is challenging but it also offers a unique investigatory chance and the opportunity to apply data mining techniques such as artificial intelligence. We will also reflect on how the incorporation of the improved knowledge base into routine diagnostics can pave the way for better treatment and more cure in AML.