Splicing factor SF3B1 mutations and ring sideroblasts in myelodysplastic syndromes: a Brazilian cohort screening study
Rev. bras. hematol. hemoter
; 38(4): 320-324, Oct.-Dec. 2016. tab, graf
Article
em En
| LILACS
| ID: biblio-829951
Biblioteca responsável:
BR1.1
Localização: BR408.1
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Síndromes Mielodisplásicas
/
Splicing de RNA
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Fatores de Processamento de RNA
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Anemia Sideroblástica
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
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Screening_studies
Limite:
Female
/
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article
/
Project document
País de afiliação:
Brasil