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Clinical Significance of SF3B1 Mutations in Myelodysplastic Syndromes and Myelodysplastic/Myeloproliferative Neoplasms
SF3B1 Mutations Predict Favorable Outcome in Myelodysplastic/Myeloproliferative Disease
L Malcovati, E Papaemmanuil, DT Bowen, M Cazzola, et al
20111108
2011 Dec 8
Blood
Clinical Significance of SF3B1 Mutations in Myelodysplastic Syndromes and Myelodysplastic/Myeloproliferative Neoplasms
Blood. 2011 Dec 8;118(24):6239-6246, L Malcovati, E Papaemmanuil, DT Bowen, M Cazzola, et al
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Abstract
Abstract
In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS). Here, we define the clinical significance of these mutations in MDS and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). The coding exons of SF3B1 were screened using massively parallel pyrosequencing in patients with MDS, MDS/MPN, or acute myeloid leukemia (AML) evolving from MDS. Somatic mutations of SF3B1 were found in...
