Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia
Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia
复制标题
瘤内遗传异质性和细胞遗传学畸变数量为慢性淋巴细胞白血病提供了额外的预后意义
DOI：
10.1038/gim.2016.81
复制
发表时间：
2017
影响因子：
8.8
通讯作者：
Lugui Qiu
中科院分区：
文献类型：
--
作者：
Shuhua Yi;Zengjun Li;Dehui Zou;Gang An;Rui Cui;Shizhen Zhong;Heng Li;Wenjie Xiong;Chenwen Li;Weiwei Chen;Wei Liu;Rui Lv;Zhen Yu;Huijun Wang;Yan Xu;Keshu Zhou;Kun Ru;Jianxiang Wang;Tao Cheng;Lugui Qiu
目的：慢性淋巴细胞白血病(CLL)是一种具有细胞遗传学异常的异质性疾病，目前仍被认为是判断预后的金标准。方法：用一组DNA探针通过荧光原位杂交技术检测13q14的RB1/D13S25、11q22的ATM、17p13的TP53、CEP12和14q32的IgH易位。结果：在传统的预后良好或中性预后组(即del 13q、12三体和/或t(14q32))中，这三种异常的重合在首次治疗前的时间、无进展生存期和总生存期方面均恶化。然而，在传统的预后不良组(即，del 11q或del 17p)中，与具有主要不良克隆的患者相比，具有次要不利克隆的患者具有意想不到的生存优势。结合细胞遗传学异常数目和瘤内遗传亚克隆的新的细胞遗传学预后系统比常规系统更准确。结论：CLL的预后应综合考虑细胞遗传学异常数目和瘤内遗传亚克隆的大小。
Purpose:Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with cytogenetic aberrations that are still considered the gold standard of prognostic factors. However, heterogeneity remains within each cytogenetic group, especially in patients with concomitant cytogenetic aberrations.Methods:A panel of DNA probes was used to detect cytogenetic aberrations, including RB1/D13S25 at 13q14, ATM at 11q22, TP53 at 17p13, CEP12 and IGH translocation at 14q32, by fluorescence in situ hybridization. A comprehensive method integrating the number of cytogenetic aberrations and intratumoral genetic heterogeneity was used to analyze the prognosis for patients with concomitant aberrations.Results:Within the conventional favorable or neutral prognostic groups (ie, with del 13q, trisomy 12, and/or t (14q32)), the coincidence of these three aberrations worsened survival in terms of time to first therapy, progression-free survival, and overall survival. However, within the conventional unfavorable prognostic group (ie, del 11q or del 17p), patients with a minor unfavorable clone had an unexpected survival advantage compared with patients with a major unfavorable clone. A new cytogenetic prognostic system that integrates the number of cytogenetic aberrations and intratumoral genetic subclones was more precise than the conventional system.Conclusion:The number of cytogenetic aberrations and the size of intratumoral genetic subclones should be comprehensively considered to determine the prognosis for CLL.