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Updated: Feb 4, 2026

Transduction-Transplantation Mouse Model of Myeloproliferative Neoplasm
Published on: December 22, 2016
SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms
Amandeep Aujla1, Katherine Linder2, Chaitanya Iragavarapu3
11Department of Medicine, New York Medical College and Westchester Medical Center, Valhalla, NY USA.
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.
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