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Myelodysplastic syndromes are a heterogeneous group of stem cell disorders that have been associated with a variety of mutations in genes involved in RNA splicing, chromatin modulation, and cell signaling pathways.
In this week's issue of Blood, Papaemmanuil and colleagues provide new insights into the clonal evolution of these mutations and their role in the evolution of MDS.
In the manuscript investigators detail results of their efforts to sequence 111 genes in 738 patients, demonstrating the sequential occurrence of mutations that dictate prognosis and risk of acute leukemia. Data also identify early driver mutations, most commonly in RNA splicing genes, that may dictate the future evolution of clinical phenotypes with implications for leukemia-free survival.
Through this analysis, investigators demonstrate that the number of mutations indicates worsening survival, and suggest a hierarchy of acquired mutations that dictate the evolution to acute leukemia. These observations underscore the potential of analysis of oncogenic mutations and suggest future pathways for targeted clinical intervention.
Clinical and biological implications of driver mutations in myelodysplastic syndromes, Authors: Elli Papaemmanuil, Moritz Gerstung, Luca Malcovati, Sudhir Tauro, Gunes Gundem, Peter Van Loo, Chris J. Yoon, Peter Ellis, David C. Wedge, Andrea Pellagatti, Adam Shlien, Michael John Groves, Simon A. Forbes, Keiran Raine, Jon Hinton, Laura J. Mudie, Stuart McLaren, Claire Hardy, Calli Latimer, Matteo G. Della Porta, Sarah O’Meara, Ilaria Ambaglio, Anna Galli, Adam P. Butler, Gunilla Walldin, Jon W. Teague, Lynn Quek, Alex Sternberg, Carlo Gambacorti-Passerini, Nicholas C. P. Cross, Anthony R. Green, Jacqueline Boultwood, Paresh Vyas, Eva Hellstrom-Lindberg, David Bowen, Mario Cazzola, Michael R. Stratton, and Peter J. Campbell, blood - doi: 10.1182/blood-2013-08-518886
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our Stem Cell Research category page for the latest news on this subject.
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18 Apr. 2014. <http://www.medicalnewstoday.com/releases/269301>
Blood. (2013, November 26). "Clinical and biological implications of driver mutations in myelodysplastic syndromes." Medical News Today. Retrieved from
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