The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
Open accessAbstract
Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms associated with remarkable heterogeneity in the histomorphology and clinical course. Various somatic mutations are involved in the pathogenesis of MDS. Recently, mutations in a gene encoding a spliceosomal protein, SF3B1, were discovered in a distinct form of MDS with ring sideroblasts. Whole exome sequencing of 15 patients with myeloid neoplasms was performed, and somatic mutations in spliceosomal genes were identified. Sanger sequencing of 310 patients was performed to assess phenotype/genotype associations. To determine the functional effect of spliceosomal mutations, we evaluated pre-mRNA splicing profiles by RNA deep sequencing. We identified additional somatic mutations in spliceosomal genes, including SF3B1, U2AF1, and SRSF2. These mutations alter pre-mRNA splicing patterns. SF3B1 mutations are prevalent in low-risk MDS with ring sideroblasts, whereas U2AF1 and SRSF2 mutations are frequent in chronic myelomonocytic leukemia and advanced forms of MDS. SF3B1 mutations are associated with a favorable prognosis, whereas U2AF1 and SRSF2 mutations are predictive for shorter survival. Mutations affecting spliceosomal genes that result in defective splicing are a new leukemogenic pathway. Spliceosomal genes are probably tumor suppressors, and their mutations may constitute diagnostic biomarkers that could potentially serve as therapeutic targets.
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Cites
International scoring system for evaluating prognosis in myelodysplastic syndromes
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Recurring mutations found by sequencing an acute myeloid leukemia genome
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DNMT3A Mutations in Acute Myeloid Leukemia
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Mutation in TET2 in Myeloid Cancers
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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
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TP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression
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Self-citation
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Mechanisms and Regulation of Alternative Pre-mRNA Splicing
Lee, Y., & Rio, D. C. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034316 · Cited by 1,291
Somatic mutations precede acute myeloid leukemia years before diagnosis
Desai, P., Mencia-Trinchant, N., Savenkov, O., Simon, M. S., Cheang, G., Lee, S., Samuel, M., Ritchie, E. K., Guzman, M. L., Ballman, K. V., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0081-z · Cited by 619
Seiler, M., Peng, S., Agrawal, A. A., Palacino, J., Teng, T., Zhu, P., Smith, P. G., Caesar-Johnson, S. J., Demchok, J. A., Felau, I., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.01.088 · Cited by 444
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.03.017 · Cited by 434
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Metadata
- Authors
- Makishima, H., Visconte, V., Sakaguchi, H., Jankowska, A. M., Abu Kar, S., Jerez, A., Przychodzen, B., Bupathi, M., Guinta, K., Afable, M. G., Sekeres, M. A., Padgett, R. A., Tiu, R. V., & Maciejewski, J. P.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-04-05
- Volume
- 119
- Issue
- 14
- Pages
- 3203-3210
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2167750080
- Cited by
- 370
- References
- 10
- FWCI
- 28.81
- Type
- journal article
- Language
- en
- Open access
- green
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- Makishima, H., Visconte, V., Sakaguchi, H., Jankowska, A. M., Abu Kar, S., Jerez, A., Przychodzen, B., Bupathi, M., Guinta, K., Afable, M. G., Sekeres, M. A., Padgett, R. A., Tiu, R. V., & Maciejewski, J. P. (2012). Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. https://doi.org/10.1182/blood-2011-12-399774
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