Article
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS).
Leukemia & lymphoma - 1 Jul 2017
Martín Iván, Such Esperanza, Navarro Blanca, Vicente Ana, López-Pavía María, Ibáñez Mariam, Tormo Mar, Villamón Eva, Gómez-Seguí Inés, Luna Irene, Oltra Silvestre, Pedrola Laia, Sanz Miguel Angel, Cervera Jose, Sanz Guillermo
Abstract excerpt
The incidence of SF3B1 mutations in patients with RARS is high. Recently, it has been shown that SF3B1 and DNMT3A mutations overlap more often than expected, although it is not clear how this could affect the disease. We studied SF3B1 and DNMT3A in 123 RARS patients: 101 out of 123 samples (82%) had somatic mutations in SF3B1, and 13 of them (13%) showed a co-mutation (SF3B1mutDNMT3Amut). All co-mutated patients...
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