INCREASED risk of acute lymphoblastic leukaemia (ALL) can be attributed to a genetic mutation in a similar manner to the BRCA1 mutation that can lead to ovarian and breast cancers.
A new study pinpoints a newly discovered heritable genetic cause of ALL, specifically a mutation of the ETV6 gene. This discovery may allow doctors to predict the development of ALL in people, establish strategies to prevent the disease, and to increase monitoring. Approximately 30,000 cases of ALL are diagnosed every year in the USA, with the majority of these in children aged 2-5 years.
“These people are born with a broken gene and it sets them up for leukaemia,” said Dr Chris Porter, Investigator, University of Colorado Cancer Center and Associate Professor, Department of Paediatrics, University of Colorado Anschutz School of Medicine, Aurora, Colorado, USA.
These new findings all stem from the treatment of a family with an abnormally high rate of ALL. Upon close examination, it was found that the family all bore similar haematological traits: large red blood cells, low platelet counts, and a tendency to bleed. The family’s unusual blood dynamics and predisposition implied a common genetic denominator. The scientists’ task was to investigate exactly what in the family’s genes produced the blood abnormalities.
The investigators performed whole exome sequencing of the family members who were predisposed to ALL, creating a snapshot of each protein-producing gene in their chromosomes. These data were then used to compare the high-risk genomes with normal-risk genomes. Upon comparison the key difference between the two was found to be the ETV6 mutation.
The research team aims to reveal the prevalence of the ETV6 mutation in future studies. “It is not common in a general population,” said Dr Porter, “but we think it might be much more common in people who develop ALL.”
Dr Porter concluded: “The paper highlights this gene in the development of leukaemia. By studying this mutation, we should be able to gather a better understanding of how leukaemia develops.”