دورية أكاديمية
أعرض في EDS

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

التفاصيل البيبلوغرافية
العنوان: The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
المؤلفون: Choi IY; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Ling JP; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.; Kavli Neuroscience Discovery Institute, Johns Hopkins University, Baltimore, MD., Zhang J; Department of Biological Sciences, Columbia University, New York, NY., Helmenstine E; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Walter W; Munich Leukemia Laboratory, Munich, Germany., Tsakiroglou P; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Bergman RE; Division of Hematology, Oncology, Department of Medicine, Vanderbilt University Medical Center and The Vanderbilt-Ingram Cancer Center, Nashville, TN., Philippe C; Barts Cancer Institute, Queen Mary University of London, London, United Kingdom., Manley JL; Department of Biological Sciences, Columbia University, New York, NY., Rouault-Pierre K; Barts Cancer Institute, Queen Mary University of London, London, United Kingdom., Li B; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China., Wiseman DH; Epigenetics of Haematopoiesis Laboratory, Division of Cancer Sciences, The University of Manchester, Manchester, United Kingdom.; Department of Haematology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Batta K; Epigenetics of Haematopoiesis Laboratory, Division of Cancer Sciences, The University of Manchester, Manchester, United Kingdom.; Department of Haematology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Ouseph M; Division of Pathology & Laboratory Medicine, Weill Cornell Medicine, New York, NY., Bernard E; Computational Oncology Service, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.; Center for Hematologic Malignancies, Memorial Sloan Kettering Cancer Center, New York, NY., Dubner B; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Li X; Department of Hematology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Haferlach T; Munich Leukemia Laboratory, Munich, Germany., Koget A; Division of Hematology and Cellular Therapy, Allegheny Health Network Cancer Institute, Pittsburgh, PA., Fazal S; Division of Hematology and Cellular Therapy, Allegheny Health Network Cancer Institute, Pittsburgh, PA., Jain T; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Gocke CD; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD., DeZern AE; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD., Dalton WB; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD.
المصدر: Blood advances [Blood Adv] 2024 Aug 13; Vol. 8 (15), pp. 3961-3971.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Washington, DC : American Society of Hematology, [2016]-
مواضيع طبية MeSH: RNA Splicing Factors*/genetics , RNA Splicing Factors*/metabolism , Myelodysplastic Syndromes*/genetics , Phosphoproteins*/genetics , RNA Splicing*, Humans ; Mutation ; Anemia, Sideroblastic/genetics ; Female ; Prognosis ; Aged ; Male
مستخلص: Abstract: Among the most common genetic alterations in myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, and generally associate with a more favorable prognosis. However, not all SF3B1 mutations are the same, and little is known about how distinct hotspots influence disease. Here, we report that the E592K variant of SF3B1 associates with high-risk disease features in MDS, including a lack of RS, increased myeloblasts, a distinct comutation pattern, and a lack of favorable survival seen with other SF3B1 mutations. Moreover, compared with other hot spot SF3B1 mutations, E592K induces a unique RNA missplicing pattern, retains an interaction with the splicing factor SUGP1, and preserves normal RNA splicing of the sideroblastic anemia genes TMEM14C and ABCB7. These data have implications for our understanding of the functional diversity of spliceosome mutations, as well as the pathobiology, classification, prognosis, and management of SF3B1-mutant MDS.
(© 2024 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)
التعليقات: Update of: Res Sq. 2023 Apr 14:rs.3.rs-2802265. doi: 10.21203/rs.3.rs-2802265/v1. (PMID: 37090662)
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معلومات مُعتمدة: R01 HL159306 United States HL NHLBI NIH HHS; R35 GM118136 United States GM NIGMS NIH HHS; R37 GM048259 United States GM NIGMS NIH HHS; R56 HL159306 United States HL NHLBI NIH HHS
المشرفين على المادة: 0 (RNA Splicing Factors)
0 (SF3B1 protein, human)
0 (Phosphoproteins)
تواريخ الأحداث: Date Created: 20240517 Date Completed: 20240726 Latest Revision: 20240830
رمز التحديث: 20240830
مُعرف محوري في PubMed: PMC11331715
DOI: 10.1182/bloodadvances.2023011260
PMID: 38759096
قاعدة البيانات: MEDLINE
الوصف
تدمد:2473-9537
DOI:10.1182/bloodadvances.2023011260