Article
EZH2 mutational status predicts poor survival in myelofibrosis.
Blood - 10 Nov 2011
Guglielmelli Paola, Biamonte Flavia, Score Joannah, Hidalgo-Curtis Claire, Cervantes Francisco, Maffioli Margherita, Fanelli Tiziana, Ernst Thomas, Winkelman Nils, Jones Amy V, Zoi Katerina, Reiter Andreas, Duncombe Andrew, Villani Laura, Bosi Alberto, Barosi Giovanni, Cross Nicholas C P, Vannucchi Alessandro M
Abstract excerpt
We genotyped 370 subjects with primary myelofibrosis (PMF) and 148 with postpolycythemia vera/postessential thrombocythemia (PPV/PET) MF for mutations of EZH2. Mutational status at diagnosis was correlated with hematologic parameters, clinical manifestations, and outcome. A total of 25 different EZH2 mutations were detected in 5.9% of PMF, 1.2% of PPV-MF, and 9.4% of PET-MF patients; most were exonic heterozygous...
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