Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

• Published in: The New England journal of medicine Vol. 365; no. 15; pp. 1384 - 1395
• Main Authors: Papaemmanuil, E, Cazzola, M, Boultwood, J, Malcovati, L, Vyas, P, Bowen, D, Pellagatti, A, Wainscoat, J.S, Hellstrom-Lindberg, E, Gambacorti-Passerini, C, Godfrey, A.L, Rapado, I, Cvejic, A, Rance, R, McGee, C, Ellis, P, Mudie, L.J, Stephens, P.J, McLaren, S, Massie, C.E, Tarpey, P.S, Varela, I, Nik-Zainal, S, Davies, H.R, Shlien, A, Jones, D, Raine, K, Hinton, J, Butler, A.P, Teague, J.W, Baxter, E.J, Score, J, Galli, A, Della Porta, M.G, Travaglino, E, Groves, M, Tauro, S, Munshi, N.C, Anderson, K.C, El-Naggar, A, Fischer, A, Mustonen, V, Warren, A.J, Cross, N.C.P, Green, A.R, Futreal, P.A, Stratton, M.R, Campbell, P.J
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 13.10.2011
• Subjects: Biological and medical sciences; Bone marrow; Deoxyribonucleic acid; DNA; Erythrocytes - pathology; Exons; Gene Expression Profiling; General aspects; Genetic testing; Genomes; Hematologic and hematopoietic diseases; High-Throughput Nucleotide Sequencing; Humans; Leukemia; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical sciences; Medicin och hälsovetenskap; Mitochondria; mRNA; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; Myelodysplastic Syndromes - genetics; Pathogenesis; Phenotype; Phosphoproteins - genetics; Point Mutation; Ribonucleoprotein, U2 Small Nuclear - genetics; RNA Splicing Factors; Sideroblasts; Splicing factors; Statistical analysis; Somatic mutation; Medicine; Ring; Malignant hemopathy; Sideroblast; Myelodysplastic syndrome; Cancer

Abnormalities in a gene encoding a messenger RNA splicing enzyme were found in nearly two thirds of patients with myelodysplastic syndromes characterized by ring sideroblasts. Patients with mutations had improved survival as compared with those without mutations. The myelodysplastic syndromes are a...