STASIK, S., J. M. MIDDEKE, M. KRAMER, C. ROLLIG, A. KRAMER, S. SCHOLL, A. HOCHHAUS, M. CRYSANDT, T .H. BRUMMENDORF, R. NAUMANN, B. STEFFEN, V. KUNZMANN, H. EINSELE, M. SCHAICH, A. BURCHERT, A. NEUBAUER, K. SCHAFER-ECKART, C. SCHLIEMANN, S. KRAUSE, R. HERBST, M. HANEL, N. FRICKHOFEN, R. NOPPENEY, U. KAISER, C. D. BALDUS, M. KAUFMANN, Zdeněk RÁČIL, U. PLATZBECKER, W. E. BERDEL, Jiří MAYER, H. SERVE, C. MULLER-TIDOW, G. EHNINGER, M. BORNHAUSER, J. SCHETELIG and C. THIEDE. EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia. Haematologica. PAVIA: FERRATA STORTI FOUNDATION, 2020, vol. 105, No 5, p. "E228"-"E231", 4 pp. ISSN 0390-6078. Available from: https://dx.doi.org/10.3324/haematol.2019.222323.
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Basic information
Original name EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia
Authors STASIK, S. (276 Germany), J. M. MIDDEKE (276 Germany), M. KRAMER (276 Germany), C. ROLLIG (276 Germany), A. KRAMER (276 Germany), S. SCHOLL (276 Germany), A. HOCHHAUS (276 Germany), M. CRYSANDT (276 Germany), T .H. BRUMMENDORF (276 Germany), R. NAUMANN (276 Germany), B. STEFFEN (276 Germany), V. KUNZMANN (276 Germany), H. EINSELE (276 Germany), M. SCHAICH (276 Germany), A. BURCHERT (276 Germany), A. NEUBAUER (276 Germany), K. SCHAFER-ECKART (276 Germany), C. SCHLIEMANN (276 Germany), S. KRAUSE (276 Germany), R. HERBST (276 Germany), M. HANEL (276 Germany), N. FRICKHOFEN (276 Germany), R. NOPPENEY (276 Germany), U. KAISER (276 Germany), C. D. BALDUS, M. KAUFMANN (276 Germany), Zdeněk RÁČIL (203 Czech Republic, belonging to the institution), U. PLATZBECKER (276 Germany), W. E. BERDEL (276 Germany), Jiří MAYER (203 Czech Republic, belonging to the institution), H. SERVE (276 Germany), C. MULLER-TIDOW (276 Germany), G. EHNINGER (276 Germany), M. BORNHAUSER (276 Germany), J. SCHETELIG (276 Germany) and C. THIEDE (276 Germany).
Edition Haematologica, PAVIA, FERRATA STORTI FOUNDATION, 2020, 0390-6078.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30205 Hematology
Country of publisher Italy
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 9.941
RIV identification code RIV/00216224:14110/20:00116244
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.3324/haematol.2019.222323
UT WoS 000530645400007
Keywords in English ANAGRELIDE; GENERATION; GENES; P53
Tags 14110212, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 26/8/2021 12:29.
Abstract
The enhancer of zeste homolog 2 (EZH2) is a histone methyltransferase and functional core subunit of the polycomb repressive complex 2 (PRC2), which is a key epigenetic regulator involved in embryonic development and transcriptional repression of genes by catalyzing the methylation of histone H3 at lysine 27 (H3K27me2/3). EZH2 overexpression has been associated with oncogenic activity and worse progression-free survival in several types of cancer including lymphoma, melanoma, prostate and breast cancer.2 Moreover, the detection of recurrent EZH2 mutations, both gain-of-function in lymphomas and loss-of-function in e.g. in medulloblastoma, bladder and renal cancers, point to a mutual role of EZH2 for disease pathology depending on the distinct type of cancer and indicate the potential of EZH2 as a therapeutic target. In myeloid malignancies such as myelodysplastic syndromes (MDS), loss of EZH2 activity by inactivating mutations is associated with poor prognosis. More recently, EZH2 inactivation by post translational modification was shown to induce chemoresistance in acute myeloid leukemia (AML). However, data on the frequency and prognostic role of EZH2 mutations in AML are still scarce and mostly confined to smaller cohorts. To investigate the prevalence and prognostic impact of this alteration in more detail, we analyzed a large cohort of AML patients (n = 1604) for EZH2 mutations.
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