Correlation of Leukemia Genes Overexpression and Point Mutations in Different Tissues

摘要

Chromosomal aberrations are a hallmark of leukemia. The prognostication of acute lymphocytic leukemia (ALL), chronic lymphocytic leukemia (CLL), acute myeloid leukemia (AML), and chronic myeloid leukemia (CML) has vastly expanded with chromosomal analyses over the years. Current treatment strategy has been refined by discovery of genes and its mutations which are involved in disease causation and progression. These genes are named biomarkers or prognostic markers and they give information about favorable and unfavorable prognosis of the patients. This paper aims to summarize the most common mutated genes in all four types of leukemia and to find correlation of their expression and point mutations in certain tissues, using COSMIC database. Highest number of point mutations in leukemia genes was found in hematopoietic and lymphoid tissues and it was three times higher than in other tissues which could be explained by relatedness of genes with specific leukemia. Mostly overexpressed gene was CEBPA whereas NOTCH 1 gene had the highest number of point mutations. Further research about new prognostic markers is crucial because they can significantly improve development of new therapeutic targets thereby increasing patient outcome and quality of life.