EZH2 mutational status predicts poor survival in myelofibrosis

• Published in: Blood Vol. 118; no. 19; pp. 5227 - 5234
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 10.11.2011; Americain Society of Hematology
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Disease-Free Survival; DNA-Binding Proteins - genetics; Enhancer of Zeste Homolog 2 Protein; Exons; Female; Hematologic and hematopoietic diseases; Heterozygote; Humans; Janus Kinase 2 - genetics; Kaplan-Meier Estimate; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Middle Aged; Mutation; Mutation, Missense; Polycomb Repressive Complex 2; Polycythemia Vera - etiology; Polycythemia Vera - genetics; Primary Myelofibrosis - complications; Primary Myelofibrosis - genetics; Prognosis; Repressor Proteins - genetics; Thrombocythemia, Essential - etiology; Thrombocythemia, Essential - genetics; Transcription Factors - genetics; Young Adult; Histone-lysine N-methyltransferase; Myelofibrosis; Hematology; Enzyme; Transferases; Transcription repressor; Hemopathy; Survival; Myeloproliferative syndrome; Methyltransferases; Ezh2 gene; Genetics; Mutation; Predictive factor

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 EZH...