Myelodysplastic syndrome is a leukemic syndrome that often progresses to life-threatening AML. In a new study, we show that mutations found in the bulk of the tumor originate in individual hematopoietic stem cells, demonstrating clearly that this disease is driven by the stem cells.
We combined exome sequencing, targeted sequencing and RNA-seq and used single-cell sequencing to demonstrate the clonal nature of the disease within individual hematopoietic stem cells.
The research is the result of a very fruitful collaboration with Sten-Eirik Jacobsen’s group, and led by his postdoc Peter Woll and Una Kjällquist from my group. A large international team of scientists contributed to the findings.