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Mieloproliferative syndromes

Mario Cazzola, Marianna Rossi, Luca Malcovati
Precursor mRNA splicing is catalyzed by the spliceosome, a macromolecule composed of small nuclear RNAs associated with proteins. The SF3B1 gene encodes subunit 1 of the splicing factor 3b, which is important for anchoring the spliceosome to precursor mRNA. In 2011, whole-exome sequencing studies showed recurrent somatic mutations of SF3B1 and other genes of the RNA splicing machinery in patients with myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm. SF3B1 mutations had a particularly high frequency among conditions characterized by ring sideroblasts, which is consistent with a causal relationship...
January 10, 2013: Blood
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
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...
December 8, 2011: Blood
Izabela Florek, Tomasz Sacha, Magdalena Zawada, Sylwia Czekalska, Kajetana Foryciarz, Dorota Cwynar, Elzbieta Pecek, Aleksander B Skotnicki
Chronic Myeloid Leukemia (CML), belonging to mieloproliferative syndromes, is one of the myeloproliferative clonal hyperplasia. It is caused by the Philadelphia chromosome resulting from the reciprocal translocation, t(9;22) between the long arms of chromosomes 9 and 22. This results in the production of fusion BCR-ABL transcript and chimeric protein--tyrosine kinase activity. This protein leads to increased proliferation, resistance to apoptosis, and worse adhesion of CML cells. Molecular analysis are very important in the era treatment of CML by tyrosine kinase inhibitors (TKI)...
2010: Przegla̧d Lekarski
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