New markers could pave the way to early diagnosis of AML in the healthy population

A research letter just published in the journal Nature by an International group of researchers directed by Grace Collord of the Wellcome Sanger Institute and University of Cambridge, in England, “provides proof-of-principle that it may be possible to develop tests to identify people at a high risk of developing acute myeloid leukemia (AML)”.

The group included researchers at the European Bioinformatics Institute, the Princess Margaret Cancer Center in Canada and the Weizmann Institute in Israel: they sequenced stored blood DNA samples from 124 AML patients and 676 healthy people who remained free from AML or a related cancer, and identified changes in DNA of healthy people that might spot the start of progression towards acute myeloid leukemia an average of 6.3 years before the appearance of first symptoms.

“Acute myeloid leukemia often appears very suddenly in patients, so we were surprised to discover that its origins are generally detectable more than five years before the disease develops,” Collord, said, reminding that the mortality rate is 90 percent when the disease is diagnosed after age 65, and most cases have no detectable early symptoms.

“These studies took advantage of large population-based cohorts in which blood cell DNA was prospectively banked before the onset of disease and therefore were able to analyze premalignant tissue” commented Rob S. Sellar and colleagues from the Brigham and Women’s Hospital in Boston, USA, in a “News & views” article published on Nature Medicine along with a second similar study (by Pinkal Desai, Nuria Mencia-Trinchant et al from Weill Cornell Medical College, New York, NY, USA). “The ultimate aim of such integrated models would be to test interventions that may mitigate the adverse consequences of CHIP [Clonal hematopoiesis of indeterminate potential]. These new reports provide another useful step toward such models and the rational design of interventional studies.” they conclude.

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