EZH2 mutations and impact on clinical outcome: an analysis in
1,604 patients with newly diagnosed acute myeloid leukemia

J 2020

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia

STASIK, S., J. M. MIDDEKE, M. KRAMER, C. ROLLIG, A. KRAMER et. al.

Základní údaje

Originální název

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia

Autoři

STASIK, S. (276 Německo), J. M. MIDDEKE (276 Německo), M. KRAMER (276 Německo), C. ROLLIG (276 Německo), A. KRAMER (276 Německo), S. SCHOLL (276 Německo), A. HOCHHAUS (276 Německo), M. CRYSANDT (276 Německo), T .H. BRUMMENDORF (276 Německo), R. NAUMANN (276 Německo), B. STEFFEN (276 Německo), V. KUNZMANN (276 Německo), H. EINSELE (276 Německo), M. SCHAICH (276 Německo), A. BURCHERT (276 Německo), A. NEUBAUER (276 Německo), K. SCHAFER-ECKART (276 Německo), C. SCHLIEMANN (276 Německo), S. KRAUSE (276 Německo), R. HERBST (276 Německo), M. HANEL (276 Německo), N. FRICKHOFEN (276 Německo), R. NOPPENEY (276 Německo), U. KAISER (276 Německo), C. D. BALDUS, M. KAUFMANN (276 Německo), Zdeněk RÁČIL (203 Česká republika, domácí), U. PLATZBECKER (276 Německo), W. E. BERDEL (276 Německo), Jiří MAYER (203 Česká republika, domácí), H. SERVE (276 Německo), C. MULLER-TIDOW (276 Německo), G. EHNINGER (276 Německo), M. BORNHAUSER (276 Německo), J. SCHETELIG (276 Německo) a C. THIEDE (276 Německo)

Vydání

Haematologica, PAVIA, FERRATA STORTI FOUNDATION, 2020, 0390-6078

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Itálie

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 9.941

Kód RIV

RIV/00216224:14110/20:00116244

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3324/haematol.2019.222323

UT WoS

000530645400007

Klíčová slova anglicky

ANAGRELIDE; GENERATION; GENES; P53

Štítky

14110212, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 26. 8. 2021 12:29, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

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 a 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, roč. 105, č. 5, s. "E228"-"E231", 4 s. ISSN 0390-6078. Dostupné z: https://dx.doi.org/10.3324/haematol.2019.222323.

@article{1674773,
   author = {Stasik, S. and Middeke, J. M. and Kramer, M. and Rollig, C. and Kramer, A. and Scholl, S. and Hochhaus, A. and Crysandt, M. and Brummendorf, T .H. and Naumann, R. and Steffen, B. and Kunzmann, V. and Einsele, H. and Schaich, M. and Burchert, A. and Neubauer, A. and SchaferandEckart, K. and Schliemann, C. and Krause, S. and Herbst, R. and Hanel, M. and Frickhofen, N. and Noppeney, R. and Kaiser, U. and Baldus, C. D. and Kaufmann, M. and Ráčil, Zdeněk and Platzbecker, U. and Berdel, W. E. and Mayer, Jiří and Serve, H. and MullerandTidow, C. and Ehninger, G. and Bornhauser, M. and Schetelig, J. and Thiede, C.},
   article_location = {PAVIA},
   article_number = {5},
   doi = {http://dx.doi.org/10.3324/haematol.2019.222323},
   keywords = {ANAGRELIDE; GENERATION; GENES; P53},
   language = {eng},
   issn = {0390-6078},
   journal = {Haematologica},
   title = {EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia},
   url = {http://www.haematologica.org/content/haematol/early/2019/08/13/haematol.2019.222323.full.pdf},
   volume = {105},
   year = {2020}
}

TY  - JOUR
ID  - 1674773
AU  - Stasik, S. - Middeke, J. M. - Kramer, M. - Rollig, C. - Kramer, A. - Scholl, S. - Hochhaus, A. - Crysandt, M. - Brummendorf, T .H. - Naumann, R. - Steffen, B. - Kunzmann, V. - Einsele, H. - Schaich, M. - Burchert, A. - Neubauer, A. - Schafer-Eckart, K. - Schliemann, C. - Krause, S. - Herbst, R. - Hanel, M. - Frickhofen, N. - Noppeney, R. - Kaiser, U. - Baldus, C. D. - Kaufmann, M. - Ráčil, Zdeněk - Platzbecker, U. - Berdel, W. E. - Mayer, Jiří - Serve, H. - Muller-Tidow, C. - Ehninger, G. - Bornhauser, M. - Schetelig, J. - Thiede, C.
PY  - 2020
TI  - EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia
JF  - Haematologica
VL  - 105
IS  - 5
SP  - "E228"-"E231"
EP  - "E228"-"E231"
PB  - FERRATA STORTI FOUNDATION
SN  - 03906078
KW  - ANAGRELIDE
KW  - GENERATION
KW  - GENES
KW  - P53
UR  - http://www.haematologica.org/content/haematol/early/2019/08/13/haematol.2019.222323.full.pdf
L2  - http://www.haematologica.org/content/haematol/early/2019/08/13/haematol.2019.222323.full.pdf
N2  - 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.
ER  -

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 a C. THIEDE. EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia. \textit{Haematologica}. PAVIA: FERRATA STORTI FOUNDATION, 2020, roč.~105, č.~5, s.~''E228''-''E231'', 4 s. ISSN~0390-6078. Dostupné z: https://dx.doi.org/10.3324/haematol.2019.222323.

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