作者
Luca Malcovati, Elli Papaemmanuil, David T Bowen, Jacqueline Boultwood, Matteo G Della Porta, Cristiana Pascutto, Erica Travaglino, Michael J Groves, Anna L Godfrey, Ilaria Ambaglio, Anna Gallì, Matteo C Da Vià, Simona Conte, Sudhir Tauro, Norene Keenan, Ann Hyslop, Jonathan Hinton, Laura J Mudie, James S Wainscoat, P Andrew Futreal, Michael R Stratton, Peter J Campbell, Eva Hellström-Lindberg, Mario Cazzola, Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative
发表日期
2011/12/8
期刊
Blood, The Journal of the American Society of Hematology
卷号
118
期号
24
页码范围
6239-6246
出版商
American Society of Hematology
简介
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 …
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L Malcovati, E Papaemmanuil, DT Bowen, J Boultwood… - Blood, The Journal of the American Society of …, 2011