SRSF2 P95h Mutation Promotes Myeloid Biased Hematopoiesis and Initiates Myeloproliferative/Myelodysplastic Syndromes From Hematopoietic Stem Cells

Myelodysplastic syndromes (MDS) are a collection of heterogeneous clonal stem cell disorders that lead to ineffective hematopoiesis and multi-lineage cytopenia. Treatment options for MDS patients are limited and its pathogenesis remains unelucidated. In recent years, sequencing studies have uncovered recurrent mutations in MDS. Particularly, mutations in the RNA splicing machinery have generated great interest since it is one of the most frequently mutated pathways. Mutations of SRSF2, a spliceosome component, are found in high-risk MDS (12 –15%) or chronic myelomonocytic leukaemia (CMML; 40–50%)- an aggressive myeloproliferative neoplasm.

Source: Experimental Hematology - August 1, 2018 Category: Hematology Authors: Jane Jialu Xu, Monique Smeets, Shuh Ying Tan, Alistair Chalk, Scott Taylor, Meaghan Wall, Louise Purton, Carl Walkley Source Type: research