Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans.
Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans.
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中国慢性淋巴细胞白血病患者 SF3B1、NOTCH1、MYD88、BIRC3 和 IGHV 突变以及 TP53 破坏的频率：与欧洲人的差异。
DOI：
10.18632/oncotarget.3101
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发表时间：
2015-03-10
期刊：
影响因子：
--
通讯作者：
Li JY
中科院分区：
文献类型：
--
作者：
Xia Y;Fan L;Wang L;Gale RP;Wang M;Tian T;Wu W;Yu L;Chen YY;Xu W;Li JY
我们研究了307例慢性淋巴细胞性白血病(CLL)患者在不同治疗前后几个CLL相关基因突变的不同疾病阶段。突变频率分别为SF3B1，5%，NOTCH1，8%，MYD88，8%，BIRC3，2%，TP53，15%，IGHV，60%。这些频率中有几个与报告的以欧洲血统为主的慢性淋巴细胞性白血病患者不同。生物学和临床相关分析包括SF3B1和NOTCH1突变与未突变的IGHV，MYD88突变与突变的IGHV，SF3B1突变与氟达拉滨耐药的CLL，NOTCH1突变与晚期Binet病和+12。多因素分析证实NOTCH1突变与较短的生存期相关，但SF3B1突变与TP53和生殖系IGHV的同时突变混淆了相关性。与以欧洲血统为主的慢性淋巴细胞性白血病患者相比，中国人和慢性淋巴细胞性白血病患者突变的发生率和预后影响存在差异。这些数据可能对CLL的病因和生物学有深入的了解，并提示不同的CLL人群可能需要不同的风险分层模型。
We studied 307 consecutive Chinese with chronic lymphocytic leukemia (CLL) in diverse disease-stages before and after diverse therapies for mutations in several CLL-related genes. Mutation frequencies were SF3B1, 5%, NOTCH1, 8%, MYD88, 8%, BIRC3, 2%, TP53, 15% and IGHV, 60%. Several of these frequencies differ from those reported in persons of predominately European descent with CLL. Biological and clinical associations were detected including SF3B1 and NOTCH1 mutations with un-mutated IGHV, MYD88 mutations with mutated IGHV, SF3B1 mutations with fludarabine-resistant CLL and NOTCH1 mutation with advanced Binet disease stage and with +12. The NOTCH1 correlation with briefer survival was confirmed in multivariate analyses but the SF3B1 correlation was confounded by concurrent mutations in TP53 and germline IGHV. We show differences in incidence and prognostic impact of mutations in Chinese and CLL compared with persons of predominately European descent with CLL. These data may give insights into the etiology and biology of CLL and suggests different risk stratification models may be needed for different CLL populations.
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影响因子：
6.5
作者：
Greipp PT;Smoley SA;Viswanatha DS;Frederick LS;Rabe KG;Sharma RG;Slager SL;Van Dyke DL;Shanafelt TD;Tschumper RC;Zent CS
通讯作者：
Zent CS
DOI：
10.1084/jem.20110921
发表时间：
2011-07-04
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Fabbri G;Rasi S;Rossi D;Trifonov V;Khiabanian H;Ma J;Grunn A;Fangazio M;Capello D;Monti S;Cresta S;Gargiulo E;Forconi F;Guarini A;Arcaini L;Paulli M;Laurenti L;Larocca LM;Marasca R;Gattei V;Oscier D;Bertoni F;Mullighan CG;Foá R;Pasqualucci L;Rabadan R;Dalla-Favera R;Gaidano G
通讯作者：
Gaidano G
影响因子：
2.7
作者：
Chen, Lijuan;Zhang, Yaping;Li, Jianyong
通讯作者：
Li, Jianyong
影响因子：
20.3
作者：
Schnaiter, Andrea;Paschka, Peter;Stilgenbauer, Stephan
通讯作者：
Stilgenbauer, Stephan
影响因子：
11.4
作者：
Strefford, J. C.;Sutton, L-A;Rosenquist, R.
通讯作者：
Rosenquist, R.