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
in English
| LILACS
| ID: biblio-829951
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Myelodysplastic Syndromes
/
RNA Splicing
/
RNA Splicing Factors
/
Anemia, Sideroblastic
/
Mutation
Type of study:
Diagnostic study
/
Etiology study
/
Prognostic study
/
Risk factors
/
Screening study
Limits:
Female
/
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Rev. bras. hematol. hemoter
Journal subject:
Hematology
Year:
2016
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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