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Series GSE15688 Query DataSets for GSE15688
Status Public on May 28, 2009
Title Acquired mutations in TET2 are common in myelodysplastic syndromes
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary 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 performed SNP-array-based genomic profiling and genomic sequencing in 102 patients. We identified acquired deletions, missense and nonsense mutations in a new gene, TET2, in 26% of MDS patients. Using allele-specific assays, TET2 mutations were shown to be present in the majority of the myeloid cells (56-100%, 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.
Overall design Genomic DNA from 102 bone marrow samples and 8 isolated T-cell fractions from MDS patients was hybridized on Affymetrix SNP arrays according to manufacturer's procedures. From one patient, T-cell fraction, mononuclear MDS fraction, and an AML diagnosis sample was hybridized on Affymetrix SNP 6.0 arrays.
Contributor(s) Langemeijer SM, Kuiper RR, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH
Citation(s) 19483684
Submission date Apr 15, 2009
Last update date Nov 27, 2018
Contact name Roland P. Kuiper
Phone +31243610868
Fax +31243668752
Organization name Radboud University Nijmegen Medical Centre
Department Human Genetics
Street address Geert Grooteplein 10
City Nijmegen
ZIP/Postal code 6525GA
Country Netherlands
Platforms (2)
GPL3718 [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (122)
GSM392561 UPN01_MDS
GSM392562 UPN02_MDS
GSM392563 UPN03_MDS
BioProject PRJNA116639

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE15688_RAW.tar 3.2 Gb (http)(custom) TAR (of CEL, CHP)
Processed data provided as supplementary file
Processed data included within Sample table

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