Rodríguez-Vicente Ana E, Bikos Vasilis, Hernández-Sánchez María, Malcikova Jitka, Hernández-Rivas Jesús-María, Pospisilova Sarka
Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, United Kingdom.
IBSAL, IBMCC, Centro de Investigación del Cáncer, Universidad de Salamanca, CSIC, Hospital Universitario de Salamanca, Salamanca, Spain.
Oncotarget. 2017 Jul 24;8(41):71234-71248. doi: 10.18632/oncotarget.19525. eCollection 2017 Sep 19.
The rapid progress in next-generation sequencing technologies has significantly contributed to our knowledge of the genetic events associated with the development, progression and treatment resistance of chronic lymphocytic leukemia patients. Together with the discovery of new driver mutations, next-generation sequencing has revealed an immense degree of both intra- and inter-tumor heterogeneity and enabled us to describe marked clonal evolution. Advances in immunogenetics may be implemented to detect minimal residual disease more sensitively and to track clonal B cell populations, their dynamics and molecular characteristics. The interpretation of these aspects is indispensable to thoroughly examine the genetic background of chronic lymphocytic leukemia. We review and discuss the recent results provided by the different next-generation sequencing techniques used in studying the chronic lymphocytic leukemia genome, as well as future perspectives in the methodologies and applications.
下一代测序技术的快速发展极大地增进了我们对与慢性淋巴细胞白血病患者的发生、进展和治疗耐药性相关的遗传事件的了解。随着新的驱动突变的发现，下一代测序揭示了肿瘤内和肿瘤间存在高度的异质性，并使我们能够描述显著的克隆进化。免疫遗传学的进展可用于更灵敏地检测微小残留病，并追踪克隆性B细胞群体、其动态变化和分子特征。对这些方面的解读对于全面研究慢性淋巴细胞白血病的遗传背景不可或缺。我们回顾并讨论了用于研究慢性淋巴细胞白血病基因组的不同下一代测序技术所提供的最新结果，以及这些方法和应用的未来前景。
