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| Status |
Public on Oct 01, 2009 |
| Title |
High-resolution SNP-array profiling in myeloproliferative neoplasms |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
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| Summary |
SNP arrays allow for genome-wide profiling of copy-number alterations (CNAs) and copy-neutral runs of homozygosity (ROH) at high resolution. To identify novel genetic lesions in myeloproliferative neoplasms (MPN), a large series of 151 clinically well-characterized patients was analyzed in our study. CNAs were rare in essential thrombocythemia and polycythemia vera. In contrast, approximately one third of myelofibrosis patients exhibited small genomic losses (< 5 Mb). In two secondary myelofibrosis cases the tumor suppressor gene NF1 in 17q11.2 was affected. Sequencing analyses revealed a mutation in the remaining NF1 allele of one patient. In terms of ROH, no chromosomes other than 9p were recurrently affected. In conclusion, in our study we identified novel genomic aberrations in MPN, in particular in patients with myelofibrosis. Further analyses on single-gene level are necessary to uncover the mechanisms that are involved in the pathogenesis of MPN.
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| Overall design |
Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved diagnostic peripheral blood samples.
Copy number analysis of Affymetrix 250K SNP arrays was performed for 151 myeloproliferative neoplasm samples [essential thrombocythemia, n=45; polycythemia vera, n=45; secondary myelofibrosis, n=14; primary myelofibrosis, n=47]. There are also 60 samples from acute myeloid leukemia patients in remission which were used as references for unpaired analysis.
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| Contributor(s) |
Stegelmann F, Bullinger L, Griesshammer M, Holzmann K, Habdank M, Kuhn S, Maile C, Schauer S, Döhner H, Döhner K |
| Citation(s) |
20015882 |
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| Submission date |
Sep 21, 2009 |
| Last update date |
May 17, 2017 |
| Contact name |
Frank Stegelmann |
| E-mail(s) |
frank.stegelmann@uniklinik-ulm.de
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| Organization name |
University Hospital of Ulm
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| Department |
Internal Medicine III
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| Street address |
Albert-Einstein-Allee 23
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| City |
Ulm |
| ZIP/Postal code |
89081 |
| Country |
Germany |
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| Platforms (2) |
| GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
| GPL3720 |
[Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array |
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| Samples (212)
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| Relations |
| BioProject |
PRJNA119513 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE18197_RAW.tar |
5.3 Gb |
(http)(custom) |
TAR (of CEL, CHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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