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

Flávia Sacilotto Donaires, Felipe Martelli, Raquel de Melo Alves-Paiva, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro, Rodrigo Tocantins Calado

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6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)320-324
Number of pages5
JournalRevista Brasileira de Hematologia e Hemoterapia
Issue number4
Publication statusPublished - 1 Oct 2016
Externally publishedYes


  • Myelodysplastic syndromes
  • Ring sideroblasts
  • SF3B1

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