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
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndromes myélodysplasiques
/
Épissage des ARN
/
Facteurs d'épissage des ARN
/
Anémie sidéroblastique
/
Mutation
Type d'étude:
Etude diagnostique
/
Etude d'étiologie
/
Étude pronostique
/
Facteurs de risque
/
Étude de dépistage
Limites du sujet:
Femelle
/
Humains
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Rev. bras. hematol. hemoter
Thème du journal:
Hématologie
Année:
2016
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade de São Paulo/BR
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