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Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

Articolo
Data di Pubblicazione:
2011
Abstract:
In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS). Here, we define the clinical significance of these mutations in MDS and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). The coding exons of SF3B1 were screened using massively parallel pyrosequencing in patients with MDS, MDS/MPN, or acute myeloid leukemia (AML) evolving from MDS. Somatic mutations of SF3B1 were found in 150 of 533 (28.1%) patients with MDS, 16 of 83 (19.3%) with MDS/MPN, and 2 of 38 (5.3%) with AML. There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive predictive value for ring sideroblasts of 97.7% (95% confidence interval, 93.5%-99.5%). In multivariate analysis including established risk factors, SF3B1 mutations were found to be independently associated with better overall survival (hazard ratio = 0.15, P = .025) and lower risk of evolution into AML (hazard ratio = 0.33, P = .049). The close association between SF3B1 mutations and disease phenotype with ring sideroblasts across MDS and MDS/MPN is consistent with a causal relationship. Furthermore, SF3B1 mutations are independent predictors of favorable clinical outcome, and their incorporation into stratification systems might improve risk assessment in MDS.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Myelodysplastic syndrome; gene; RNA splicing; SF3B1; mutation; ring sideroblast; prognosis
Elenco autori:
Malcovati, Luca; Papaemmanuil, E; Bowen, Dt; Boultwood, J; DELLA PORTA, MATTEO GIOVANNI; Pascutto, C; Travaglino, E; Groves, Mj; Godfrey, Al; Ambaglio, Ilaria; Galli', Anna; DA VIA', MATTEO CLAUDIO; Conte, S; Tauro, S; Keenan, N; Hyslop, A; Hinton, J; Mudie, Lj; Wainscoat, Js; Futreal, Pa; Stratton, Mr; Campbell, Pj; Hellström Lindberg, E; Cazzola, Mario
Autori di Ateneo:
DELLA PORTA MATTEO GIOVANNI
MALCOVATI LUCA
Link alla scheda completa:
https://iris.unipv.it/handle/11571/373923
Pubblicato in:
BLOOD
Journal
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URL

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3236114/?tool=pubmed
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