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Publication year
2009Author(s)
Source
Nature Genetics, 41, 7, (2009), pp. 838-42ISSN
Publication type
Article / Letter to editor

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Organization
Haematology
CHL
Laboratory of Hematology
Human Genetics
Tumorimmunology
Journal title
Nature Genetics
Volume
vol. 41
Issue
iss. 7
Page start
p. 838
Page end
p. 42
Subject
NCMLS 2: Immune Regulation; NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 3: Translational researchAbstract
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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- Electronic publications [107311]
- Faculty of Medical Sciences [86198]
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