Genetic Cause of Increased Leukemia Risk Identified

Scientists from the University of Colorado Cancer Center have determined that a mutation in the ETV6 gene is the genetic cause of acute lymphoblastic leukemia (ALL).  The ETV6 gene is a gene that encodes a transcription factor required for the formation of blood cells and for maintaining the arrangement of blood vessels in the body.  Much like how the identification of the BRCA gene mutation allowed doctors to predict the development of breast and ovarian cancer, the identification of the ETV6 gene mutation may grant doctors the ability to predict the development of ALL.  The identification of the ETV6 gene mutation may also help doctors to develop strategies to prevent ALL.

            Dr. Chris Porter, an investigator at the CU Cancer Center, stated that the study began with the performance of whole exome sequencing on a family that had an unusually high rate of ALL.  The sequencing data obtained from the high-risk genomes were compared to normal-risk healthy genomes.  During the examination of the two genomes, bioinformaticist Ken Jones realized that a mutation in the ETV6 gene was the only difference between them.

            Previous studies have revealed that somatic mutations of the ETV6 gene are associated with the development of blood cancers.  Somatic mutations of the gene, however, require the help of other mutations in order to cause ALL.  Germline mutations of the ETV6 gene create the possibility of the development of leukemia from birth.  Dr. Chris Porter stated that he and his colleagues hope to conduct future studies to help reveal the prevalence of the mutation of the ETV6 gene.

            I think the findings of this study are exciting because people will now be able to know if they are likely to be affected by ALL and will be provided with the opportunity to prepare and take steps to catch it early in development.  Hopefully future studies will help provide strategies on how to help prevent the development of ALL.