EZH2 mutations are related to low blast percentage in bone marrow and -7/del(7q) in de novo acute myeloid leukemia.
EZH2 mutations are related to low blast percentage in bone marrow and -7/del(7q) in de novo acute myeloid leukemia.
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EZH2 突变与骨髓中的低原始细胞百分比和新发急性髓系白血病中的 -7/del(7q) 有关。
DOI：
10.1371/journal.pone.0061341
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Wu D
中科院分区：
文献类型：
--
作者：
Wang X;Dai H;Wang Q;Wang Q;Xu Y;Wang Y;Sun A;Ruan J;Chen S;Wu D
本研究的目的是通过对整个编码区进行测序，确定714例新发急性髓性白血病患者中EZH2体细胞突变的发生率和临床意义。EZH2突变在13/714 (1.8%)AML患者中发现，男性更常见（P = 0.033）。EZH2突变的存在与骨髓中较低的母细胞百分比（21-30%）（P<0.0001）和-7/del(7q) （P = 0.025）显著相关。EZH2突变患者与非EZH2突变患者之间ASXL1、CBL、c-KIT、DNMT3A、FLT3、IDH1、IDH2、MLL、NPM1、NRAS、RUNX1、TET2、WT1等13个基因的突变发生率无差异。EZH2突变患者和未突变患者的完全缓解、无事件生存期或总生存期均无差异（P < 0.05）。总的来说，这些结果表明EZH2突变在新发急性髓性白血病中作为复发性遗传异常与BM和-7/del的低细胞百分比（7q）相关。
The purpose of the present work was to determine the incidence and clinical implications of somatic EZH2 mutations in 714 patients with de novo acute myelogenous leukemia by sequencing the entire coding region. EZH2 mutations were identified in 13/714 (1.8%) of AML patients were found to be more common in males (P = 0.033). The presence of EZH2 mutations was significantly associated with lower blast percentage (21–30%) in bone marrow (P<0.0001) and -7/del(7q) (P = 0.025). There were no differences in the incidence of mutation in 13 genes, ASXL1, CBL, c-KIT, DNMT3A, FLT3, IDH1, IDH2, MLL, NPM1, NRAS, RUNX1, TET2, and WT1, between patients with and without EZH2 mutations. No difference in complete remission, event-free survival, or overall survival was observed between patients with and without EZH2 mutation (P>0.05). Overall, these results showed EZH2 mutation in de novo acute myeloid leukemia as a recurrent genetic abnormality to be associated with lower blast percentage in BM and -7/del(7q).
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体细胞突变改变生发中心起源的滤泡性和弥漫性大 B 细胞淋巴瘤中的 EZH2 (Tyr641)。
影响因子：
30.8
作者：
Morin, Ryan D.;Johnson, Nathalie A.;Severson, Tesa M.;Mungall, Andrew J.;An, Jianghong;Goya, Rodrigo;Paul, Jessica E.;Boyle, Merrill;Woolcock, Bruce W.;Kuchenbauer, Florian;Yap, Damian;Humphries, R. Keith;Griffith, Obi L.;Shah, Sohrab;Zhu, Henry;Kimbara, Michelle;Shashkin, Pavel;Charlot, Jean F.;Tcherpakov, Marianna;Corbett, Richard;Tam, Angela;Varhol, Richard;Smailus, Duane;Moksa, Michelle;Zhao, Yongjun;Delaney, Allen;Qian, Hong;Birol, Inanc;Schein, Jacqueline;Moore, Richard;Holt, Robert;Horsman, Doug E.;Connors, Joseph M.;Jones, Steven;Aparicio, Samuel;Hirst, Martin;Gascoyne, Randy D.;Marra, Marco A.
通讯作者：
Marra, Marco A.
DOI：
10.1056/nejmoa1005143
发表时间：
2010-12-16
期刊：
The New England journal of medicine
影响因子：
--
作者：
Ley TJ;Ding L;Walter MJ;McLellan MD;Lamprecht T;Larson DE;Kandoth C;Payton JE;Baty J;Welch J;Harris CC;Lichti CF;Townsend RR;Fulton RS;Dooling DJ;Koboldt DC;Schmidt H;Zhang Q;Osborne JR;Lin L;O'Laughlin M;McMichael JF;Delehaunty KD;McGrath SD;Fulton LA;Magrini VJ;Vickery TL;Hundal J;Cook LL;Conyers JJ;Swift GW;Reed JP;Alldredge PA;Wylie T;Walker J;Kalicki J;Watson MA;Heath S;Shannon WD;Varghese N;Nagarajan R;Westervelt P;Tomasson MH;Link DC;Graubert TA;DiPersio JF;Mardis ER;Wilson RK
通讯作者：
Wilson RK
影响因子：
158.5
作者：
Delhommeau, Francois;Dupont, Sabrina;Bernard, Olivier A.
通讯作者：
Bernard, Olivier A.
影响因子：
56.9
作者：
Cao, R;Wang, LJ;Zhang, Y
通讯作者：
Zhang, Y
影响因子：
11.4
作者：
Huh, YO;Jilani, I;Albitar, M
通讯作者：
Albitar, M