Genomics and Diagnostics in Acute Myeloid Leukaemia

Cancers can be best described as genetic diseases, where mutations typically accumulate over a protracted period of time, leading to a cellular shift from normalcy to malignancy and an ever-evolving tumour and its microenvironment. The tools at our disposal to characterise the genetic landscape(s) of these tumours and our appreciation of their complexity have fundamentally changed over the last 10 years, following the first whole-genome sequencing (WGS) of a case of acute myeloid leukaemia (AML) in 2008 and the introduction of global initiatives (e.g. The Cancer Genome Atlas (TCGA)), both with an overarching goal of improving diagnosis, treatment and cancer prevention by setting out to systematically explore the entire spectrum of genomic changes involved in human disease. While this journey is far from complete, modern diagnosis of cancers now relies on the integration of morphological and molecular information that, together, offer the potential to refine classification, establish prognosis and determine the most appropriate treatment for groups of patients. In this chapter, we examine how genomics has revolutionised our understanding of the diagnosis of blood cancers, using the exemplar of AML, and how this new knowledge is set to inform and direct treatment in the near future.