Our work on predicting acute leukaemia based on blood sequencing is out in @nature. Essentially the risk of AML transformation can be determined 5-10yr prior to diagnosis from mutations in blood cells. >>
rdcu.be/2Muh
rdcu.be/2Muh
In this study, individuals who progressed to AML harboured more and slightly different pathogenic mutations -- and these affected more cells than in healthy individuals. The time scale is surprising as AML usually manifests rapidly. >>
Yet it is also a demonstration that somatic evolution and neoplastic transformation is common and takes place over long periods. The boundary between benign (ARCH) and malignant (AML) is somewhat blurry, but there is signal to quantify the risk of progression.
Additionally a predictive pattern was found in standard blood counts, preceding diagnosis by about 1yr. This may help identify individuals to be prioritised for genetic testing. >>
The study was based on the EPIC cohort which followed 500,000 individuals for more than 15yrs, highlighting the utility of well-annotated study populations and benefit of voluntary participation in research projects. >>
Lastly, the paper is the synthesis of two independent studies that mutually validated each other, demonstrating the need for data sharing and collaboration; it was further corroborated by a third study in @NatureMedicine rdcu.be/2Lrq
