Understanding the basis of co-operativity between srsf2p95h mutation and tet2 deletion in a mouse model of myeloproliferative/myelodysplastic syndromes

Myelodysplastic syndromes (MDS) are a collection of heterogeneous clonal stem cell disorders that lead to ineffective haematopoiesis and multi-lineage cytopenia. Mutations of SRSF2, a spliceosome component, are found in high-risk MDS (12-15%) and chronic myelomonocytic leukaemia (CMML; 40-50%)- an aggressive myeloproliferative neoplasm (MPN). In patients, SRSF2P95H mutation frequently co-occurs with mutations in other pathways, such as DNA methylation, chromatin modification and transcription. In CMML, co-occurrence of SRSF2 and TET2 mutation is highly prevalent (50-60%) and confers a worse overall survival (OS).

Source: Experimental Hematology - July 31, 2019 Category: Hematology Authors: Jane Xu, Monique Smeets, Alistair Chalk, Louise Purton, Carl Walkley Tags: 3155 Source Type: research