Article
Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.
PloS one - 1 Jan 2012
Traina Fabiola, Visconte Valeria, Jankowska Anna M, Makishima Hideki, O'Keefe Christine L, Elson Paul, Han Yingchun, Hsieh Fred H, Sekeres Mikkael A, Mali Raghuveer Singh, Kalaycio Matt, Lichtin Alan E, Advani Anjali S, Duong Hien K, Copelan Edward, Kapur Reuben, Olalla Saad Sara T, Maciejewski Jaroslaw P, Tiu Ramon V
Abstract excerpt
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...
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