Skip to main content
SpringerLink
Log in

A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages

  • Letter to the Editor
  • Published:
Leukemia Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1

References

  1. Wahl MC, Will CL, Lührmann R . The spliceosome: design principles of a dynamic RNP machine. Cell 2009; 136: 701–718.

    Article  CAS  PubMed  Google Scholar 

  2. Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011; 365: 2497–2506.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64–69.

    Article  CAS  PubMed  Google Scholar 

  4. Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2011; 44: 47–52.

    Article  PubMed  Google Scholar 

  5. Scott LM, Rebel VI . Acquired mutations that affect pre-mRNA splicing in hematologic malignancies and solid tumors. J Natl Cancer Inst 2013; 105: 1540–1549.

    Article  CAS  PubMed  Google Scholar 

  6. Harbour JW, Roberson EDO, Anbunathan H, Onken MD, Worley LA, Bowcock AM . Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013; 45: 133–135.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Furney SJ, Pedersen M, Gentien D, Dumont AG, Rapinat A, Desjardins L et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 2013; 3: 1122–1129.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Martin M, Maßhöfer L, Temming P, Rahmann S, Metz C, Bornfeld N et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013; 45: 933–936.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Rossi D, Spina V, Bomben R, Rasi S, Dal-Bo M, Bruscaggin A et al. Association between molecular lesions and specific B-cell receptor subsets in chronic lymphocytic leukemia. Blood 2013; 121: 4902–4905.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank Pierre de la Grange for splicing analysis of UM and design of QPCR primers, Odette Mariani and colleagues for UM samples, Audrey Gauthier and Elena Mylonas for assembly and characterization of patients.

Author information

Authors and Affiliations

  1. Institut Curie, Centre de Recherche, Paris, France

    D Gentien, B Albaud, A Rapinat, A G Dumont, T Popova, S Roman-Roman & M-H Stern

  2. Translational Research Department, Paris, France

    D Gentien, B Albaud, A Rapinat & S Roman-Roman

  3. Département Développement, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Centre, Hôpital Cochin, Service d’Hématologie Biologique, Institut Cochin, Reproduction, Cancer, INSERM U1016 CNRS UMR8104, and Université Paris Descartes, Paris, France

    O Kosmider & M Fontenay

  4. Service d'Hématologie Biologique, Hôpital Pitié-Salpêtrière and INSERM U872, UPMC, Paris, France

    F Nguyen-Khac

  5. INSERM U830, Paris, France

    A G Dumont, T Popova & M-H Stern

  6. The Cancer Research UK Manchester Institute, Manchester, UK

    R Marais

  7. INSERM U985, Institut Gustave Roussy, Villejuif, France and Université Paris-Sud, Orsay, France

    F Damm & O A Bernard

Authors
  1. D Gentien
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. O Kosmider
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. F Nguyen-Khac
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. B Albaud
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A Rapinat
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. A G Dumont
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. F Damm
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. T Popova
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. R Marais
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. M Fontenay
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. S Roman-Roman
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. O A Bernard
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. M-H Stern
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M-H Stern.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Additional information

Supplementary Information accompanies this paper on the Leukemia website

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gentien, D., Kosmider, O., Nguyen-Khac, F. et al. A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages. Leukemia 28, 1355–1357 (2014). https://doi.org/10.1038/leu.2014.28

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/leu.2014.28

  • Springer Nature Limited

This article is cited by

Search

Navigation