Research is going towards a blood test to identify, years before diagnosis, who will become ill with acute myeloid leukemia, a very aggressive blood tumor that appears suddenly and for which, even today, we have not yet reached the possibility of effectively treating all patients. One of the most comprehensive prospective cancer epidemiological studies ever undertaken was the journal Nature, which published the recent study resulting from the collaboration between the Weizmann Institute of Science (Israel) and the Wellcome Sanger Institute (Cambridge) and based on data from the EPIC study. We talk about this topic with Professor Matteo Della Porta, head of the leukemia department at Humanitas and professor of hematology at Humanitas University.
Predicting leukemia through a blood test: is this possible?
The experts compared blood samples from the EPIC (European Prospective Investigation in Cancer and Nutrition) study subjects collected when all the subjects involved were healthy and the samples were stored for a long time in a biobank. Over time, some individuals have experienced various cancers including acute myeloid leukemia. Scientists compared the blood of 124 people who became ill with leukemia with the blood of 676 people who remained healthy. The comparison showed that years before the onset of the disease in the blood of future patients there were genetic changes at specific points of DNA (genetic mutations). It is precisely these ‘pre-cancer’ changes that could become the basis for predictive blood testing for leukemia. “Our study – says one of the authors, George Vassiliou of the Sanger Institute – provides scientific evidence that for the first time it is possible to identify people at risk of developing acute myeloid leukemia years before its onset. We hope to develop reliable screening tests to identify people at risk.
Humanitas experts at the forefront
“Knowing these risk factors in advance, which can be a prelude to acute leukemia in subsequent years, is extremely important in the immediate future in order to subject these individuals to targeted active clinical surveillance (blood diseases are better treated if diagnosed at an early stage) and, with a view to the future, to develop real prevention strategies”, explains Professor Della Porta.
“Humanitas is also at the forefront of research in this field, through a major project funded by Fondazione Cariplo, AIRC and the Foundation to Beat Leukemia. Two years ago we started a project involving over 5000 subjects enrolled for the development of a test for the screening of patients at risk of developing blood tumors – said Professor Della Porta – We are developing a technology that through the collection of a few milliliters of peripheral blood (i.e. in an absolutely non-invasive way) will be able to give information through a next generation sequencing analysis on the presence of mutations at the level of genes known to be associated with the developmental ischium of leukemia and other blood tumors. To carry out the project we are collaborating with Professor Vassiliou of the Sanger Institute, a center of worldwide excellence for the development of new molecular diagnostic tests in hematology”.