Splicing factor SF3B1 mutations and ring sideroblasts in myelodysplastic syndromes: a Brazilian cohort screening study

• Autor(a) principal: Donaires,Flávia Sacilotto
• Data de Publicação: 2016
• Outros Autores: Martelli,Felipe, Alves-Paiva,Raquel de Melo, Magalhães,Silvia Maria Meira, Pinheiro,Ronald Feitosa, Calado,Rodrigo Tocantins
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842016000400320
• topic: Myelodysplastic syndromes; Ring sideroblasts; SF3B1

ABSTRACT Background: Myelodysplastic syndromes (MDS) comprise a group of malignant clonal hematologic disorders characterized by ineffective hematopoiesis and propensity for progression to acute myeloid leukemia. Acquired mutations in the gene encoding RNA splicing factor 3B subunit 1 (SF3B1) are highly associated with the MDS subtypes presenting ring sideroblasts, and represent a specific nosological entity. The effects of these mutations on clinical outcomes are diverse and contrasting. Methods: A cohort of 91 Brazilian MDS patients, including patients with ring sideroblasts in the bone marrow, were screened for mutations in the SF3B1 hotspots (exons 12-15) by direct Sanger sequencing. Results: SF3B1 heterozygous mutations were identified in six patients (7%), all of them with ring sideroblasts, thus confirming the association between SF3B1 mutations and myelodysplastic syndrome subtypes bearing this morphologic feature (frequency of 6/13, p-value < 0.0001). Conclusion: This is the first screening of SF3B1 mutations in a cohort of Brazilian myelodysplastic syndrome patients. Our findings confirm that mutations in this splicing gene correlate with bone marrow ringed sideroblasts.