Article
Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.
Leukemia research - 1 Aug 2010
Szpurka Hadrian, Jankowska Anna M, Makishima Hideki, Bodo Juraj, Bejanyan Nelli, Hsi Eric D, Sekeres Mikkael A, Maciejewski Jaroslaw P
Abstract excerpt
While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative cases constitute a diagnostic problem. 23 RARS-T cases were investigated applying immunohistochemical phospho-STAT5, sequencing and SNP-A-based karyotyping. Based on the association of TET2/ASXL1 mutations with MDS/MPN we studied molecular pattern of these genes....
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