Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Jul;41(7):838-42.
doi: 10.1038/ng.391. Epub 2009 May 31.

Acquired mutations in TET2 are common in myelodysplastic syndromes

Saskia M C Langemeijer  1 , Roland P Kuiper, Marieke Berends, Ruth Knops, Mariam G Aslanyan, Marion Massop, Ellen Stevens-Linders, Patricia van Hoogen, Ad Geurts van Kessel, Reinier A P Raymakers, Eveline J Kamping, Gregor E Verhoef, Estelle Verburgh, Anne Hagemeijer, Peter Vandenberghe, Theo de Witte, Bert A van der Reijden, Joop H Jansen
Affiliations

Acquired mutations in TET2 are common in myelodysplastic syndromes

Saskia M C Langemeijer et al. Nat Genet. 2009 Jul.

Abstract

Myelodysplastic syndromes (MDS) represent a heterogeneous group of neoplastic hematopoietic disorders. Several recurrent chromosomal aberrations have been associated with MDS, but the genes affected have remained largely unknown. To identify relevant genetic lesions involved in the pathogenesis of MDS, we conducted SNP array-based genomic profiling and genomic sequencing in 102 individuals with MDS and identified acquired deletions and missense and nonsense mutations in the TET2 gene in 26% of these individuals. Using allele-specific assays, we detected TET2 mutations in most of the bone marrow cells (median 96%). In addition, the mutations were encountered in various lineages of differentiation including CD34(+) progenitor cells, suggesting that TET2 mutations occur early during disease evolution. In healthy tissues, TET2 expression was shown to be elevated in hematopoietic cells with highest expression in granulocytes, in line with a function in myelopoiesis. We conclude that TET2 is the most frequently mutated gene in MDS known so far.

PubMed Disclaimer

Comment in

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Eur J Hum Genet. 2007 Feb;15(2):155-61 - PubMed
    1. Hematology Am Soc Hematol Educ Program. 2004;:297-317 - PubMed
    1. Cancer Res. 2008 Dec 15;68(24):10349-57 - PubMed
    1. PLoS One. 2007 Nov 21;2(11):e1225 - PubMed
    1. Hum Genet. 2001 Jul;109(1):121-4 - PubMed

Publication types

MeSH terms

Associated data