SRSF2 and U2AF1 mutations in primary myelofibrosis are associated with JAK2 and MPL but not calreticulin mutation and may independently reoccur after allogeneic stem cell transplantation

Abstract excerpt

Spliceosome gene mutations are among the 50–60 driver mutations underlying myelodysplastic syndromes (MDSs). 1 U2AF1 mutations for example have been reported to occur in up to 16% of primary myelofibrosis (PMF), and was found to be associated with anemia and thrombocytopenia in PMF. 2 We could show that spliceosome gene mutations are already present in early stages of PMF before fibrosis and cytopenia become...

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