Title: Acquired mutations in TET2 are common in myelodysplastic syndromes
Authors: 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
Verburgh, Estelle
Hagemeijer-Hausman, Anne
Vandenberghe, Peter
de Witte, Theo
van der Reijden, Bert A
Jansen, Joop H #
Issue Date: Jul-2009
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:41 issue:7 pages:838-842
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Hematology Section (-)
Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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