Takita Junko
Kyoto University, Graduate School of Medicine, Department of Pediatrics.
Rinsho Ketsueki. 2020;61(6):657-664. doi: 10.11406/rinketsu.61.657.
Recent advances in genomic analysis technology have revolutionized precision medicine, especially with respect to the diagnosis, prognosis, and treatment of pediatric cancers. Pediatric acute lymphoblastic leukemia (ALL) is the most common pediatric cancer; genetic abnormalities associated with ALL are useful for the diagnosis and risk stratification in patients with ALL. Thus, genomic medicine (clinical sequencing) in pediatric ALL at diagnosis would help in the improvement of prognostic prediction and risk stratification. Recently, integrated genetic analysis using next generation sequencing technology revealed the full genetic landscape of pediatric ALL. These studies disclosed that in addition to fusion genes, aberrations of cell proliferation pathways and epigenetic regulations are also involved in the pathogenesis of pediatric ALL. Therefore, the realization of genomic medicine is an urgent necessity for improving the outcomes of pediatric patients diagnosed with ALL.
基因组分析技术的最新进展彻底改变了精准医学，尤其是在儿童癌症的诊断、预后和治疗方面。儿童急性淋巴细胞白血病（ALL）是最常见的儿童癌症；与ALL相关的基因异常对ALL患者的诊断和风险分层很有用。因此，诊断时对儿童ALL进行基因组医学（临床测序）将有助于改善预后预测和风险分层。最近，使用下一代测序技术的综合基因分析揭示了儿童ALL的完整基因图谱。这些研究表明，除融合基因外，细胞增殖途径的异常和表观遗传调控也参与了儿童ALL的发病机制。因此，实现基因组医学对于改善被诊断为ALL的儿科患者的治疗结果迫在眉睫。
