Gottardo Nicholas G, Hoffmann Katrin, Beesley Alex H, Freitas Joseph R, Firth Martin J, Perera Kanchana U, de Klerk Nicolas H, Baker David L, Kees Ursula R
Division of Children's Leukaemia and Cancer Research, Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, WA, Australia.
Br J Haematol. 2007 May;137(4):319-28. doi: 10.1111/j.1365-2141.2007.06576.x.
In the last four decades the survival of patients with newly diagnosed childhood T-cell acute lymphoblastic leukaemia (T-ALL) has improved dramatically. In sharp contrast, relapsed T-ALL continues to confer a dismal prognosis. We sought to determine if gene expression profiling could uncover a signature of outcome for children with T-ALL. Using 12 patient specimens obtained before therapy started, we examined the gene expression profile by oligonucleotide microarrays. We identified three genes, CFLAR, NOTCH2 and BTG3, whose expression at the time of diagnosis accurately distinguished the patients according to disease outcome. These genes are involved in the regulation of apoptosis and cellular proliferation. The prognostic value of the three predictive genes was assessed in an independent cohort of 25 paediatric T-ALL patients using quantitative real-time reverse transcription polymerase chain reaction. Patients assigned to the adverse outcome group had a significantly higher cumulative incidence of relapse compared with patients assigned to the favourable outcome group (46% vs. 8%, P = 0.029). Five-year overall survival was also significantly worse in the patients assigned to the adverse outcome group (P = 0.0039). The independent influence of the 3-gene predictor was confirmed by multivariate analysis. Our study provides proof of principle that genome-wide expression profiling can detect novel molecular prognostic markers in paediatric T-ALL.
在过去的四十年里,新诊断的儿童T细胞急性淋巴细胞白血病(T-ALL)患者的生存率有了显著提高。与之形成鲜明对比的是,复发的T-ALL仍然预后不良。我们试图确定基因表达谱分析是否能揭示T-ALL患儿的预后特征。我们使用12份在治疗开始前获取的患者标本,通过寡核苷酸微阵列检测基因表达谱。我们鉴定出三个基因,即CFLAR、NOTCH2和BTG3,它们在诊断时的表达能根据疾病预后准确区分患者。这些基因参与细胞凋亡和细胞增殖的调控。我们使用定量实时逆转录聚合酶链反应,在25例儿科T-ALL患者的独立队列中评估这三个预测基因的预后价值。与被分配到良好预后组的患者相比,被分配到不良预后组的患者复发的累积发生率显著更高(46%对8%,P = 0.029)。被分配到不良预后组的患者的五年总生存率也显著更差(P = 0.0039)。多变量分析证实了三基因预测指标的独立影响。我们的研究提供了原理证明,即全基因组表达谱分析可以在儿科T-ALL中检测到新的分子预后标志物。