Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

References

  1. Cazzola M, Invernizzi R . Ring sideroblasts and sideroblastic anemias. Haematologica 2011; 96: 789–792.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Hasserjian RP, Gatterman N, Bennett JM, Brunning RD, Thiele J . Refractory anemia with ring sideroblasts. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al. (eds). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues 4th edn. IARC: Lyon, France, 2008, pp 96–97.

    Google Scholar 

  3. Kohlmann A, Grossmann V, Klein HU, Schindela S, Weiss T, Kazak B et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 2010; 28: 3858–3865.

    Article  CAS  PubMed  Google Scholar 

  4. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006; 108: 2173–2181.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Wang SA, Hasserjian RP, Loew JM, Sechman EV, Jones D, Hao S et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. Leukemia 2006; 20: 1641–1644.

    Article  PubMed  Google Scholar 

  6. Boissinot M, Garand R, Hamidou M, Hermouet S . The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood 2006; 108: 1781–1782.

    Article  CAS  PubMed  Google Scholar 

  7. Renneville A, Quesnel B, Charpentier A, Terriou L, Crinquette A, Lai JL et al. High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Leukemia 2006; 20: 2067–2070.

    Article  CAS  PubMed  Google Scholar 

  8. Gattermann N, Billiet J, Kronenwett R, Zipperer E, Germing U, Nollet F et al. High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count>600 × 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood 2007; 109: 1334–1335.

    Article  CAS  PubMed  Google Scholar 

  9. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424–2433.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Will CL, Luhrmann R . Spliceosome structure and function. Cold Spring Harb Perspect Biol 2011; 3: a.003707.

    Google Scholar 

  11. Ward AJ, Cooper TA . The pathobiology of splicing. J Pathol 2010; 220: 152–163.

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Link DC, Schuettpelz LG, Shen D, Wang J, Walter MJ, Kulkarni S et al. Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. JAMA 2011; 305: 1568–1576.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Pardanani A, Vannucchi AM, Passamonti F, Cervantes F, Barbui T, Tefferi A . JAK inhibitor therapy for myelofibrosis: critical assessment of value and limitations. Leukemia 2011; 25: 218–225.

    Article  CAS  PubMed  Google Scholar 

  14. Walter MJ, Ding L, Shen D, Shao J, Grillot M, McLellan M et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia 2011; 25: 1153–1158.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Tehranchi R, Invernizzi R, Grandien A, Zhivotovsky B, Fadeel B, Forsblom AM et al. Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes. Blood 2005; 106: 247–253.

    Article  CAS  PubMed  Google Scholar 

  16. Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet 2009; 41: 651–653.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The work was supported by Celgene Future Leaders of Hematology Award and Cleveland Clinic Institutional Seed Support (RVT); National Institutes of Health grants R01-HL082983 (JPM), U54-RR019391 (JPM and MAS) and K24-HL077522 (JPM); and a charitable donation from Robert Duggan Cancer Research Foundation. The Framingham Heart Study is conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with Boston University (contract no. N01-HC-25195). This manuscript was not prepared in collaboration with investigators of the Framingham Heart Study and does not necessarily reflect the opinions or views of the Framingham Heart Study, Boston University or NHLBI.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to R V Tiu.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Visconte, V., Makishima, H., Jankowska, A. et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 26, 542–545 (2012). https://doi.org/10.1038/leu.2011.232

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/leu.2011.232

This article is cited by

Search

Quick links