Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

doi:10.1182/blood-2011-09-377275

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Article

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Blood - 8 Dec 2011

Malcovati Luca, Papaemmanuil Elli, Bowen David T, Boultwood Jacqueline, Della Porta Matteo G, Pascutto Cristiana, Travaglino Erica, Groves Michael J, Godfrey Anna L, Ambaglio Ilaria, Gallì Anna, Da Vià Matteo C, Conte Simona, Tauro Sudhir, Keenan Norene, Hyslop Ann, Hinton Jonathan, Mudie Laura J, Wainscoat James S, Futreal P Andrew, Stratton Michael R, Campbell Peter J, Hellström-Lindberg Eva, Cazzola Mario

Abstract excerpt

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...

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PMID: 21998214
DOI: 10.1182/blood-2011-09-377275
PMCID: PMC3236114

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