Current Landscape of Genome-Wide Association Studies in Acute Myeloid Leukemia: A Review

SIMPLE SUMMARY: Acute myeloid leukemia is a rare blood cancer that develops from the clonal expansion of malignant myeloid precursor cells located in the bone marrow. Despite a relatively low incidence in the general population as compared to other cancers, it is one of the most common types of hematological cancers in adults. In recent years, various genome-wide association studies have been conducted to examine how genetic variation impacts disease risk and clinical outcomes in patients diagnosed with acute leukemias. Overall, in the field of cancer research, numerous genome-wide studies have been performed, however, there is a lack of studies specifically focused on patients diagnosed with acute myeloid leukemia. This review provides a summary of the recent genome-wide studies conducted in acute myeloid leukemia, focusing on challenges and limitations associated with research of this heterogenous and rare disease. ABSTRACT: Acute myeloid leukemia (AML) is a clonal hematopoietic disease that arises from chromosomal and genetic aberrations in myeloid precursor cells. AML is one of the most common types of acute leukemia in adults; however, it is relatively rare overall, comprising about 1% of all cancers. In the last decade or so, numerous genome-wide association studies (GWAS) have been conducted to screen between hundreds of thousands and millions of variants across many human genomes to discover genetic polymorphisms associated with a particular disease or phenotype. In oncology, GWAS has been performed in almost every commonly occurring cancer. Despite the increasing number of studies published regarding other malignancies, there is a paucity of GWAS studies for AML. In this review article, we will summarize the current status of GWAS in AML.