SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

doi:10.1182/blood-2015-03-633537

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Article

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

Blood - 9 Jul 2015

Malcovati Luca, Karimi Mohsen, Papaemmanuil Elli, Ambaglio Ilaria, Jädersten Martin, Jansson Monika, Elena Chiara, Gallì Anna, Walldin Gunilla, Della Porta Matteo G, Raaschou-Jensen Klas, Travaglino Erica, Kallenbach Klaus, Pietra Daniela, Ljungström Viktor, Conte Simona, Boveri Emanuela, Invernizzi Rosangela, Rosenquist Richard, Campbell Peter J, Cazzola Mario, Hellström Lindberg Eva

Abstract excerpt

Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS) characterized by isolated erythroid dysplasia and 15% or more bone marrow ring sideroblasts. Ring sideroblasts are found also in other MDS subtypes, such as refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). A high prevalence of somatic mutations of SF3B1 was reported in these conditions. To identify...

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PMID: 25957392
DOI: 10.1182/blood-2015-03-633537
PMCID: PMC4528082

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