NYMC Faculty Publications
SRSF2 Mutations in Myelodysplasia/Myeloproliferative Neoplasms
Journal Title
Biomarker Research
First Page
29
Document Type
Article
Publication Date
September 2018
Department
Medicine
Abstract
Recurrent gene mutations have been described with varying frequencies in myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndromes (MMOS). Recent work has placed significant focus on understanding the role of gene lesions involving the spliceosomal machinery in leukemogeneis. SRSF2 is a gene encoding critical spliceosomal proteins. SRSF2 mutations appear to play an important role in pathogenesis of MMOS, particularly in chronic myelomonocytic leukemia. Inhibition of splicing may be a new therapeutic approach. E7107, a spliceosome inhibitor, has been shown to differentially inhibit splicing more in SRSF2-mutant cells leading to decreased leukemia burden in mice. H3B-8800 is a small molecule modulator of spliceosome complex and has been shown to lower leukemia burden in SRSF2-P95H mutant mice. This review focuses on the incidence of mutant SRSF2 across various MMOS as well as recent clinical development of spliceosome inhibitors.
Recommended Citation
Aujla, A., Linder, K., Iragavarapu, C., Karass, M., & Liu, D. (2018). SRSF2 Mutations in Myelodysplasia/Myeloproliferative Neoplasms. Biomarker Research, 6, 29. https://doi.org/10.1186/s40364-018-0142-y
