Article
Two splice-factor mutant leukemia subgroups uncovered at the boundaries of MDS and AML using combined gene expression and DNA-methylation profiling.
Blood - 22 May 2014
Taskesen Erdogan, Havermans Marije, van Lom Kirsten, Sanders Mathijs A, van Norden Yvette, Bindels Eric, Hoogenboezem Remco, Reinders Marcel J T, Figueroa Maria E, Valk Peter J M, Löwenberg Bob, Melnick Ari, Delwel Ruud
Abstract excerpt
Mutations in splice factor (SF) genes occur more frequently in myelodysplastic syndromes (MDS) than in acute myeloid leukemias (AML). We sequenced complementary DNA from bone marrow of 47 refractory anemia with excess blasts (RAEB) patients, 29 AML cases with low marrow blast cell count, and 325 other AML patients and determined the presence of SF-hotspot mutations in SF3B1, U2AF35, and SRSF2. SF mutations were...
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