Department of Immunology, Erasmus MC, Dr. Molewaterplein 50, Rotterdam, The Netherlands.
Curr Hematol Malig Rep. 2007 Jul;2(3):176-82. doi: 10.1007/s11899-007-0024-0.
T-cell acute lymphoblastic leukemia (T-ALL) results from malignant transformation of immature cells of the T-cell lineage. T-ALL is a heterogeneous disease both clinically and genetically. It is generally accepted that T-ALL cells are the malignant counterpart of normally developing T cells in the thymus (thymocytes). Recent data using genome-wide gene expression profiling and assessment of the rearrangement status of the T-cell receptor loci confirm this notion. T-ALL cells differ from normal thymocytes in the overexpression of oncogenes that arise either from chromosomal translocations or via other mechanisms. In addition, signaling pathways that control the very first stages of thymocyte development (of note, the Notch and Wnt pathways) are involved in development of T-ALL in mice and humans when constitutively expressed. In particular, the activating mutations in the Notch pathways are believed to occur in a large proportion of human T-ALL. These findings on genetic events open up new therapeutic possibilities.
T 细胞急性淋巴细胞白血病(T-ALL)是由 T 细胞谱系未成熟细胞的恶性转化引起的。T-ALL 在临床上和遗传学上均具有异质性。人们普遍认为,T-ALL 细胞是胸腺(胸腺细胞)中正常发育的 T 细胞的恶性对应物。最近使用全基因组基因表达谱分析和 T 细胞受体基因座重排状态评估的数据证实了这一观点。T-ALL 细胞与正常胸腺细胞的不同之处在于,其过度表达的癌基因要么来自染色体易位,要么通过其他机制产生。此外,当持续表达时,控制胸腺细胞发育最初阶段的信号通路(值得注意的是,Notch 和 Wnt 通路)参与了小鼠和人类 T-ALL 的发生。特别是,Notch 通路中的激活突变被认为发生在很大一部分人类 T-ALL 中。这些关于遗传事件的发现为新的治疗可能性开辟了道路。