Leukemia and Lymphoma: An update of acute myeloid leukemia after Whole genome sequencing (WG)

Leukemia, known for several centuries, is a cancer of the blood and bone marrow. It starts when the DNA of a single cell in the bone marrow mutates and develops abnormal growth, which spill into blood stream. Based on the types, leukemia is classified in several groups for diagnosis and treatment. With the discovery of whole genome sequences (WGS), scientists are attempting to find out accurate diagnosis and treatment. Primary Acute myeloid leukemia (AML) samples are feasible and can detect novel, clinically relevant mutations including the clonal heterogeneity of this disease and clonal evolution that occurs over time. Some of the novel mutations are highly recurrent (>20% of patients), but there appears to be a continuum of mutation frequency down to rare (<5%) or even singleton mutations that may be relevant for the biology of this disease. Large cohorts of well-annotated samples are needed to establish mutation frequencies, implicate biological pathways, and demonstrate genotype: phenotype correlations. Recent advances in genomic techniques have unraveled the molecular complexity of AML leukemogenesis, which in turn have led to refinement of risk stratification and personalized therapeutic strategies for patients with AML