| Full text | |
| Author(s): |
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]
Total Authors: 6
|
| Affiliation: | [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
Total Affiliations: 6
|
| Document type: | Journal article |
| Source: | Revista Brasileira de Hematologia e Hemoterapia; v. 38, n. 4, p. 320-324, 2016-12-00. |
| 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. (AU) | |
| FAPESP's process: | 13/08135-2 - CTC - Center for Cell-Based Therapy |
| Grantee: | Dimas Tadeu Covas |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |