التفاصيل البيبلوغرافية
| العنوان: |
Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1and CBLMutations Are Present in Systemic Mastocytosis. |
| المؤلفون: |
Traina, Fabiola, Visconte, Valeria, Jankowska, Anna M., Makishima, Hideki, O'Keefe, Christine L., Elson, Paul, Yingchun Han, Hsieh, Fred H., Sekeres, Mikkael A., Mali, Raghuveer Singh, Kalaycio, Matt, Lichtin, Alan E., Advani, Anjali S., Duong, Hien K., Copelan, Edward, Kapur, Reuben, Saad, Sara T. Olalla, Maciejewski, Jaroslaw P., Tiu, Ramon V., Moura, Ivan Cruz |
| المصدر: |
PLoS ONE; Aug2012, Vol. 7 Issue 8, Special section p1-9, 9p |
| مصطلحات موضوعية: |
SINGLE nucleotide polymorphisms, MAST cell disease, LOSS of heterozygosity, KAPLAN-Meier estimator, KARYOTYPES, MOLECULAR genetics |
| مستخلص: |
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,0.001). In conclusion, TET2, DNMT3A and ASXL1 mutations are also present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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