Genetic changes in the blood could make it possible to identify people who are at a high risk of developing acute myeloid leukemia (AML) up to 10 years before diagnosis.
AML is an aggressive blood cancer in which rapidly multiplying cancer cells in the bone marrow block the production of normal blood cells. Because of the lack of early symptoms, people usually present with bone marrow failure. The chances of developing the cancer increase with age, and more than 90% of those diagnosed after 65 will die.1
In 2014, work by Dr. John Dick, senior scientist at Canada’s Princess Margaret Cancer Centre, discovered “pre-leukemic” stem cells in the blood of those newly diagnosed with AML. However, an accumulation of these mutations can also be part of the normal aging process.2
This is called age-related clonal hematopoiesis (ARCH), and it means scientists have been unable to use pre-leukemic stem cells as a predictor of AML.2
“Every AML patient has ARCH but not everyone with ARCH gets AML,” explained Dr. Dick.
Researchers from the Welcome Sanger Institute, European Bioinformatics Institute, the Princess Margaret Cancer Center and Israel’s Weizmann Institute looked at data from the European Prospective Investigation into Cancer and Nutrition study.
Since enrollment began in 1992, volunteers have been followed to see who develops cancer. The study has involved lifestyle questions and blood tests.
The research team compared blood samples taken from 95 AML patients approximately 6.3 years before they were diagnosed to blood samples taken from 414 participants who did not develop AML.2
They also used gene sequencing to compare the blood of 124 AML patients to that of 676 people who did not develop the condition or any other related cancer. They focused on genes that have already been shown to be linked to AML.3
People who went on to develop AML had a higher number of pre-leukemic stem cells than those who did not.
Researchers also found frequent mutations of the genes associated with AML in the blood of many of those who went on to develop the cancer.
The results indicate that it may be possible to develop a blood test that could identify people at a high risk of developing AML.
“We can find these traces up to 10 years before AML actually develops. This long time-window gives us the first opportunity to think about how to prevent AML,” said Dr. Dick.2
Post-doctoral fellow in Dr. Dick’s lab and study author, Dr. Sagi Abelson, said AML is a devastating disease that often is diagnosed too late.
“Our findings show it is possible to identify individuals in the general population who are at high risk of developing AML through a genetic test on a blood sample,” he added.
“The ultimate goal is to identify these individuals and study how we can target the mutated blood cells long before the disease actually begins.”2
Abelson S, Collord G, Ng SWK, Weissbrod O, Mendelson Cohen N, et al. Prediction of acute myeloid leukaemia risk in healthy individuals. Nature 2018; 559:400-404.
- Abelson S, Collord G, Ng SWK, Weissbrod O, Mendelson Cohen N, et al. Prediction of acute myeloid leukaemia risk in healthy individuals. Nature 2018; 559:400-404.
- Wellcome Trust Sanger Institute (2018, July 9). Roots of leukemia reveal possibility of predicting people at risk. Available from https://www.eurekalert.org/pub_releases/2018-07/wtsi-rol070618.php (accessed July 2018).
- University Health Network (2018, July 9). Leukemia researchers discover way to predict healthy people at risk for developing AML. Available from https://www.eurekalert.org/pub_releases/2018-07/uhn-lrd070518.php (accessed July 2018).