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Acquired mutations in TET2 are common in myelodysplastic syndromes

Langemeijer, Saskia M C, Kuiper, Roland P, Berends, Marieke, Knops, Ruth, Aslanyan, Mariam G, Massop, Marion, Stevens-Linders, Ellen, van Hoogen, Patricia, van Kessel, Ad Geurts, Raymakers, Reinier A P, Kamping, Eveline J, Verhoef, Gregor E, Verburgh, Estelle, Hagemeijer, Anne, Vandenberghe, Peter, de Witte, Theo, van der Reijden, Bert A, Jansen, Joop H·2009·Nature Genetics
DOI 10.1038/ng.391
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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.

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Research works printed but not linked: 18

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Metadata

Authors
Langemeijer, S. M. C., Kuiper, R. P., Berends, M., Knops, R., Aslanyan, M. G., Massop, M., Stevens-Linders, E., van Hoogen, P., van Kessel, A. G., Raymakers, R. A. P., Kamping, E. J., Verhoef, G. E., Verburgh, E., Hagemeijer, A., Vandenberghe, P., de Witte, T., van der Reijden, B. A., & Jansen, J. H.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-05-31
Volume
41
Issue
7
Pages
838-842
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/ng.391
Cited by
680
References
0
Language
en
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: Acquired mutations in TET2 are common in myelodysplastic syndromes. https://app.cochat.ai/papers/10.1038/ng.391
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Langemeijer, S. M. C., Kuiper, R. P., Berends, M., Knops, R., Aslanyan, M. G., Massop, M., Stevens-Linders, E., van Hoogen, P., van Kessel, A. G., Raymakers, R. A. P., Kamping, E. J., Verhoef, G. E., Verburgh, E., Hagemeijer, A., Vandenberghe, P., de Witte, T., van der Reijden, B. A., & Jansen, J. H. (2009). Acquired mutations in TET2 are common in myelodysplastic syndromes. Nature Genetics. https://doi.org/10.1038/ng.391