ND4 mutations are more prevalent in patients with acute myeloid leukemia of M2 morphology
ND4 mutations are more prevalent in patients with acute myeloid leukemia of M2 morphology
复制标题
ND4 突变在 M2 形态的急性髓系白血病患者中更为常见
DOI：
10.21037/23307
复制
发表时间：
2018-08
影响因子：
0.9
通讯作者：
Chun Qiao
中科院分区：
文献类型：
--
作者：
Min Xu;Xiao-Li Zhao;Yu Zhu;Wen-Yi Shen;Ming Hong;Guang-Sheng He;Han Zhu;Yao-Yu Chen;Si-Xuan Qian;Jian-Yong Li;Chun Qiao
背景资料：探讨ND 4基因突变及其他基因突变对急性髓系白血病（AML）患者预后的价值，尤其是对无核型异常的AML患者。研究方法：我们分析了460例初治AML患者的生物学和临床特征，并对FLT 3-ITD、NPM 1、c-KIT、CEBPA、DNMT 3A和ND 4基因突变情况及其对预后的影响进行了研究。结果：ND 4基因突变率为6.6%，M2型AML患者ND 4基因突变率较高（P=0.001）。约11.3%的患者被诊断为核心结合因子（CBF）AML，c-KIT突变最常见于CBF白血病患者（16.2%）。DNMT 3A突变通常在M5中发现，而在M4中未发现（P分别为0.006和0.498）。非M3患者的ND 4种系突变包括A131 V、F149 L、A404 T和Y 409 H型，而1例M3患者具有G242 D型体细胞突变。ND 4突变患者与非M3患者的CD 19表达显著相关（P=0.045）。ND 4种系突变患者的生存率可能较差，但在总生存期（OS）和无复发生存期（RFS）方面，ND 4种系突变患者与野生型患者之间无统计学意义（P=0.159和0.087，分别）。根据分子预后因素，将细胞遗传学风险正常的患者分为三组 在OS和RFS分析中（分别为P=0.017和0.025），有利的突变风险具有有利的预后，不利的突变风险具有差的预后。结论：常规分子和细胞遗传学因素可将AML患者分为不同的预后组。ND 4突变在M2患者中普遍存在，并与CD 19的高表达相关。生殖系ND 4突变患者是否预后较差仍需证实。
Background: To evaluate the prognostic value of ND4 gene mutation and other gene mutations in acute myeloid leukemia (AML) patients, especially among those without karyotype abnormalities. Methods: We analyzed the biological and clinical characteristics of 460 newly diagnosed AML patients. The mutation status and prognostic impact in FLT3 -ITD, NPM1 , c-KIT , CEBPA , DNMT3A , and ND4 genes were investigated. Results: The frequency of ND4 gene mutation was 6.6%. ND4 mutations were prevalent in patients with AML of M2 morphology (P=0.001). About 11.3% patients were diagnosed with core binding factor (CBF) AML and c-KIT mutations were most commonly seen in CBF leukemia patients (16.2%). DNMT3A mutations were usually found in M5 but not in M4 (P=0.006 and 0.498, respectively). ND4 germline mutations in non-M3 patients included types of A131V, F149L, A404T, and Y409H, while one M3 patient had type of G242D somatic mutation. Patients with ND4 mutations were significantly associated with CD19 expression in non-M3 patients (P=0.045). Patients with ND4 germline mutations may have unfavorable survival, but showed no statistical significance in overall survival (OS) and relapse-free survival (RFS) between patients with germline ND4 mutations and wild-type (P=0.159 and 0.087, respectively). According to the molecular prognostic factors, patients with normal cytogenetic risk were divided into three groups in the OS and RFS analysis (P=0.017 and 0.025, respectively) as favorable mutational risk has favorable prognosis and unfavorable mutational risk has poor one. Conclusions: Conventional molecular and cytogenetic factors could divide AML patients into distinctive prognosis groups. ND4 mutations were prevalent in M2 patients and were associated with higher expression of CD19. Whether patients with germline ND4 mutations have poorer prognosis still needs to be confirmed.
登录
查看更多内容
影响因子：
28.5
作者：
Loghavi S;Zuo Z;Ravandi F;Kantarjian HM;Bueso-Ramos C;Zhang L;Singh RR;Patel KP;Medeiros LJ;Stingo F;Routbort M;Cortes J;Luthra R;Khoury JD
通讯作者：
Khoury JD
DOI：
10.1182/hem.v13.5.6435
发表时间：
2016-09
期刊：
--
影响因子：
--
作者：
P. Moss
通讯作者：
P. Moss
影响因子：
3.1
作者：
Markova, Jana;Michkova, Petra;Schwarz, Jiri
通讯作者：
Schwarz, Jiri
影响因子：
30.8
作者：
Yan, Xiao-Jing;Xu, Jie;Chen, Sai-Juan
通讯作者：
Chen, Sai-Juan
影响因子：
1.9
作者：
D. Zare-Abdollahi;Shamsi Safari;A. Movafagh;Sahand Riazi-Isfahani;M. Ghadyani;Farzad Hashemi-Gorji;Mohammad Foad Nasrollahi;M. Omrani
通讯作者：
D. Zare-Abdollahi;Shamsi Safari;A. Movafagh;Sahand Riazi-Isfahani;M. Ghadyani;Farzad Hashemi-Gorji;Mohammad Foad Nasrollahi;M. Omrani