| Autor: |
Fabiola Traina, Valeria Visconte, Anna M Jankowska, Hideki Makishima, Christine L O'Keefe, Paul Elson, Yingchun Han, Fred H Hsieh, Mikkael A Sekeres, Raghuveer Singh Mali, Matt Kalaycio, Alan E Lichtin, Anjali S Advani, Hien K Duong, Edward Copelan, Reuben Kapur, Sara T Olalla Saad, Jaroslaw P Maciejewski, Ramon V Tiu |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
PLoS ONE, Vol 7, Iss 8, p e43090 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1932-6203 |
| DOI: |
10.1371/journal.pone.0043090 |
| Popis: |
We hypothesized that analysis of single nucleotide polymorphism arrays (SNP-A) and new molecular defects may provide new insight in the pathogenesis of systemic mastocytosis (SM). SNP-A karyotyping was applied to identify recurrent areas of loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS) was analyzed using the Kaplan-Meier method. We studied a total of 26 patients with SM. In 67% of SM patients, SNP-A karyotyping showed new chromosomal abnormalities including uniparental disomy of 4q and 2p spanning TET2/KIT and DNMT3A. Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively. No mutations were observed in EZH2 and IDH1/IDH2. Significant differences in OS were observed for SM mutated patients grouped based on the presence of combined TET2/DNMT3A/ASXL1 mutations independent of KIT (P = 0.04) and sole TET2 mutations (P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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