Two studies identify pre-cancerous state in the blood
Researchers from Karolinska Institutet together with American colleagues have uncovered an easily detectable, “pre-malignant” state in the blood that significantly increases the likelihood to develop blood cancer. The discovery, which was made independently by two research teams, opens new avenues for research aimed at early detection and prevention of blood cancer. The findings are being published in the New England Journal of Medicine.
Most research on blood cancer to date has focused on studying the genomes of advanced cancers, to identify the genes that are mutated in various cancer types. These two new studies instead looked at somatic mutations – mutations that cells acquire over time as they replicate and regenerate within the body – in DNA samples collected from the blood of individuals not known to have cancer or blood disorders.
Taking two very different approaches, the teams found that a surprising percentage of those sampled had acquired a subset – some but not all – of the somatic mutations that are present in blood cancers. These individuals were more than ten times more likely to go on to develop blood cancer in subsequent years than those in whom such mutations were not detected. The pre-malignant state identified by the studies becomes more common with age, and appears with in more than 10% of those over the age of 70. Carriers of the mutations are at an overall 5% risk of developing some form of blood cancer within five years.
Limited clinical use
Pre-malignant stage can be detected simply by sequencing DNA from blood. However, researchers point out that the findings at the moment are of limited clinical use at the moment, since there are no working therapies for cancer mutations in healthy people.
The two studies were headed from Broad Institute of MIT and Harvard, and Harvard Medical School in Boston, USA. The work with collecting and analyzing data at Karolinska Institutet was led by Christina Hultman, a Professor at the Department of Medical Epidemiology and Biostatistics, in collaboration with Dr. Anna Kähler, Dr. Johan Lindberg, and Professor Henrik Grönberg. Funding bodies has been the Stanley Foundation, the National Institute of Health, the Swedish Research Council, the Swedish Cancer Society, StratCan and Strat Neuro at Karolinska Institutet, among others.
- ‘Age-related clonal hematopoiesis associated with adverse outcomes’, Jaiswal, S et al., New England Journal of Medicine, Online First November 26, 2014. DOI: 10.1056/NEJMoa1408617
- ‘Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence’, Genovese, G et al., New England Journal of Medicine, Online First November 26, 2014, DOI: 10.1056/NEJMoa1409405.