Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
Int J Mol Sci. 2019 Jun 15;20(12):2929. doi: 10.3390/ijms20122929.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer and accounts for about a quarter of adult acute leukemias, and features different outcomes depending on the age of onset. Improvements in ALL genomic analysis achieved thanks to the implementation of next-generation sequencing (NGS) have led to the recent discovery of several novel molecular entities and to a deeper understanding of the existing ones. The purpose of our review is to report the most recent discoveries obtained by NGS studies for ALL diagnosis, risk stratification, and treatment planning. We also report the first efforts at NGS use for minimal residual disease (MRD) assessment, and early studies on the application of third generation sequencing in cancer research. Lastly, we consider the need for the integration of NGS analyses in clinical practice for genomic patients profiling from the personalized medicine perspective.
急性淋巴细胞白血病(ALL)是最常见的儿童癌症,约占成人急性白血病的四分之一,其发病年龄不同,预后也不同。得益于下一代测序(NGS)的应用,ALL 基因组分析得到了改进,最近发现了一些新的分子实体,并对现有的分子实体有了更深入的了解。我们的综述旨在报告 NGS 研究在 ALL 诊断、风险分层和治疗计划方面的最新发现。我们还报告了 NGS 用于微小残留病(MRD)评估的首次尝试,以及第三代测序在癌症研究中的早期应用。最后,我们从个性化医疗的角度考虑了将 NGS 分析纳入临床实践以对基因组患者进行分析的必要性。