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ETV6 mutations and loss in AML-M0

Leukemia volume 22, pages 1639–1643 (2008)Cite this article

ETV6 (ETS translocation-variant gene 6, located on chromosome 12p), also known as TEL, encodes a transcription repressor belonging to the E26 transforming specific (ETS) family of DNA-binding proteins. ETV6 is known as a proto-oncogene involved in translocation with over 40 partners.1 In acute myeloid leukemia (AML) only a few rare translocations result in transforming fusion proteins,1 indicating that the oncogenic role of ETV6 does not play a major part in AML. However, abnormalities of the short arm of chromosome 12 (12p) are found in about 5% of AML and myelodysplastic syndromes. Most abnormalities consist of total or partial loss of 12p usually affecting ETV6 and CDKN1B, implicating these genes as tumor-suppressor genes.1, 2, 3, 4 Recently, heterozygous mutations of ETV6, resulting in loss of repressor activity, were found in AML, adding to the view that ETV6 might have tumor-suppressor characteristics.5

Whereas translocations and deletions involving ETV6 have been reported in AML-M0, ETV6 mutations were never investigated specifically in this subtype.4, 6 To better understand the role of ETV6 in AML-M0, we studied 52 M0 patients using cytogenetic techniques complemented with single-nucleotide polymorphism (SNP) arrays and sequencing of ETV6, as described in the Supplementary Information. The cohort was not selected for any parameter rather than being AML-M0, had a median age of 61 years (one patient was a child) and consisted of de novo, therapy-related (1 case) and secondary leukemia (4 cases).

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Acknowledgements

We thank H Wessels for support with karyotyping. Patient material was kindly provided by PJ Valk, Erasmus University Medical Center; W-D Ludwig, Medical University of Berlin; WAF Marijt, Leiden University Medical Center and WR Sperr, Medical University of Vienna. This work was supported by grants from the Calouste Gulbenkian Foundation and the Foundation for Science and Technology (Portugal) to FPG Silva.

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Authors and Affiliations

  1. Department of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands

    F P G Silva, B Morolli, B Klein, H Vrieling & M Giphart-Gassler

  2. Department of Genetics and Microbiology, University of Bari, Bari, Italy

    C T Storlazzi, A Zagaria & L Impera

  3. Department of Hematology, University of Bari, Bari, Italy

    L Impera

  4. Department of Hematology, University Medical Center Groningen, Groningen, The Netherlands

    H C Kluin-Nelemans

  5. Department of Hematology, Leiden University Medical Center, Leiden, The Netherlands

    H C Kluin-Nelemans

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  1. F P G Silva
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  9. M Giphart-Gassler
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Corresponding author

Correspondence to M Giphart-Gassler.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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Silva, F., Morolli, B., Storlazzi, C. et al. ETV6 mutations and loss in AML-M0. Leukemia 22, 1639–1643 (2008). https://doi.org/10.1038/leu.2008.34

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