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

Autor(es)

Flávia Sacilotto Donaires ^[1] ; Felipe Martelli ^[2] ; Raquel de Melo Alves-Paiva ^[3] ; Silvia Maria Meira Magalhães ^[4] ; Ronald Feitosa Pinheiro ^[5] ; Rodrigo Tocantins Calado ^[6]

Afiliação do(s) autor(es)

^[1] Universidade de São Paulo - Brasil

^[2] Universidade de São Paulo - Brasil

^[3] Universidade de São Paulo - Brasil

^[4] Universidade Federal do Ceará - Brasil

^[5] Universidade Federal do Ceará - Brasil

^[6] Universidade de São Paulo - Brasil

• Tipo de documento: Artigo Científico
• Fonte: Revista Brasileira de Hematologia e Hemoterapia; v. 38, n. 4, p. 320-324, 2016-12-00.

Resumo

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. (AU)

• Processo FAPESP: 13/08135-2 - CTC - Centro de Terapia Celular
• Beneficiário: Dimas Tadeu Covas
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs