Cytogenetics and molecular genetics of acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL) is a malignant disease that often features nonrandom numerical or structural chromosome aberrations that can be detected microscopically. The application of contemporary genome-wide molecular analyses is revealing additional genetic alterations that are not detectable cytogenetically. This article describes the cytogenetic methodology and summarizes major cytogenetic findings and their clinical relevance in ALL. The article provides a review of modern molecular techniques and their application in the research on the genetics and epigenetics of ALL.