Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations
Copyright policy )Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations
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. Two patients harbored ASXL1 and another 2 TET2 mutations. Phospho-STAT5 activation was present in one mutated TET2 and ASXL1 case. JAK2V617F/MPLW515L mutations were absent in TET2/ASXL1 mutants, indicating that similar clinical phenotype can be produced by various MPN-associated mutations and that additional unifying lesions may be present in RARS-T.
- Cleveland Clinic United States
Aged, 80 and over, Thrombocytosis, Anemia, Refractory, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Anemia, Sideroblastic, Dioxygenases, DNA-Binding Proteins, Immunoenzyme Techniques, Repressor Proteins, Proto-Oncogene Proteins, Mutation, Humans, Aged
Aged, 80 and over, Thrombocytosis, Anemia, Refractory, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Anemia, Sideroblastic, Dioxygenases, DNA-Binding Proteins, Immunoenzyme Techniques, Repressor Proteins, Proto-Oncogene Proteins, Mutation, Humans, Aged
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