With your support, The MPN Research Foundation has aided in research that has resulted in a better understanding of Polycythemia Vera, Essential Thrombocythemia, and Myelofibrosis. A recent article titled “Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells” was published in the scientific journal Nature and is partially funded by MPNRF and our supporters.
According to Dr. Vijay G. Sankaran, author of the recently published work, “MPNs are known to arise due to acquired mutations in blood-forming stem cells. However, it has long been appreciated that there is a significant inherited risk for acquiring an MPN. If you have a first degree relative with an MPN, you are at 7-fold more risk for getting an MPN than the general population. However, only a limited set of genetic risk alleles had been identified to date and the mechanisms by which these genetic variants act to increase risk was unknown. In this study, we have performed large population-based studies to identify more of these inherited risk variants. We have also shown that these variants appear to act by, at least in part, expanding the number of blood-forming stem cells in the body, thereby increasing the risk that any blood stem cell could then acquire a mutation that can cause an MPN.”