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Aujla A, Linder K, Iragavarapu C, et al. SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms. Biomark Res. 2018;6:29doi: 10.1186/s40364-018-0142-y.
Aujla, A., Linder, K., Iragavarapu, C., Karass, M., & Liu, D. (2018). SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms. Biomarker research, 629. https://doi.org/10.1186/s40364-018-0142-y
Aujla, Amandeep, et al. "SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms." Biomarker research vol. 6 (2018): 29. doi: https://doi.org/10.1186/s40364-018-0142-y
Aujla A, Linder K, Iragavarapu C, Karass M, Liu D. SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms. Biomark Res. 2018 Sep 26;6:29. doi: 10.1186/s40364-018-0142-y. eCollection 2018. PMID: 30275952; PMCID: PMC6158887.
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Biomark Res. 2018 Sep 26;6:29. doi: 10.1186/s40364-018-0142-y. eCollection 2018.

SRSF2 mutations in myelodysplasia/myeloproliferative neoplasms.

Biomarker research

Amandeep Aujla, Katherine Linder, Chaitanya Iragavarapu, Michael Karass, Delong Liu

Affiliations

  1. 1Department of Medicine, New York Medical College and Westchester Medical Center, Valhalla, NY USA.
  2. 2Section of Hematology-Oncology, Department of Medicine, Baylor College of Medicine, Houston, TX USA.
  3. 3Division of Blood and Marrow Transplantation, Department of Medicine, Stanford University, Stanford, CA USA.
  4. 4The affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, 127 Dongming Road, Zhengzhou, 450008 China.

PMID: 30275952 PMCID: PMC6158887 DOI: 10.1186/s40364-018-0142-y

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.

Conflict of interest statement

This is not applicableThis is not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institu

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