New progress in the study of the relationship between splicing factor mutation and myelodysplastic syndrome
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Abstract: The myelodysplastic syndrome（MDS）is a group of heterogeneous myeloid malignant clonal diseases originating from bone marrow hematopoietic stem cells.With the wide application of second-generation sequencing technology in scientific and clinical researches,it has been proved that gene mutation plays an important role in the production and development of MDS and splicing factor mutations is the most common mutation found in MDS.New researches have shown that splicing factor mutations can lead to abnormal expansion of bone marrow hematopoietic stem/progenitor cells,pathological hematopoiesis and dysplastic differentiation,which are the markers of MDS.Importantly,recent evidences suggest that splicing inhibitors and splicing regulators can be useful in the treatment of myeloid malignancies with splicing factor mutations.This article reviews the recent advances in splicing factor mutations and the relationship between splicing factor mutations and the occurrence,development and treatment of MDS.
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Key words:
- myelodysplastic syndromes /
- splicing factor /
- target gene /
- mutation /
- treatment
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