Hattinger C M, Pötschger U, Tarkkanen M, Squire J, Zielenska M, Kiuru-Kuhlefelt S, Kager L, Thorner P, Knuutila S, Niggli F K, Ambros P F, Gadner H, Betts D R
CCRI, St. Anna Children's Hospital, A-1090 Vienna, Austria.
Br J Cancer. 2002 Jun 5;86(11):1763-9. doi: 10.1038/sj.bjc.6600332.
Although greater than 50% of Ewing tumours contain non-random cytogenetic aberrations in addition to the pathognomonic 22q12 rearrangements, little is known about their prognostic significance. To address this question, tumour samples from 134 Ewing tumour patients were analysed using a combination of classical cytogenetics, comparative genomic and fluorescence in situ hybridisation. The evaluation of the compiled data revealed that gain of chromosome 8 occurred in 52% of Ewing tumours but was not a predictive factor for outcome. Gain of 1q was associated with adverse overall survival and event-free survival in all patients, irrespective of whether the tumour was localised or disseminated (overall survival: P=0.002 and P=0.029; event-free survival: P=0.018 and P=0.010). Loss of 16q was a significant predictive factor for adverse overall survival in all patients (P=0.008) and was associated with disseminated disease at diagnosis (P=0.039). Gain of chromosome 12 was associated with adverse event-free survival (P=0.009) in patients with localised disease. These results indicate that in addition to a 22q12 rearrangement confirmation in Ewing tumours it is important to assess the copy number of 1q and 16q to identify patients with a higher probability of adverse outcome.
尽管超过50%的尤因肉瘤除了具有特征性的22q12重排外，还存在非随机的细胞遗传学畸变，但其预后意义却鲜为人知。为了解决这个问题，我们结合经典细胞遗传学、比较基因组学和荧光原位杂交技术，对134例尤因肉瘤患者的肿瘤样本进行了分析。对汇总数据的评估显示，52%的尤因肉瘤存在8号染色体增益，但这并非预后的预测因素。1号染色体长臂增益与所有患者的总生存期和无事件生存期不良相关，无论肿瘤是局限性还是播散性（总生存期：P = 0.002和P = 0.029；无事件生存期：P = 0.018和P = 0.010）。16号染色体长臂缺失是所有患者总生存期不良的重要预测因素（P = 0.008），且与诊断时的播散性疾病相关（P = 0.039）。12号染色体增益与局限性疾病患者的无事件生存期不良相关（P = 0.009）。这些结果表明，在尤因肉瘤中，除了确认22q12重排外，评估1号染色体长臂和16号染色体长臂的拷贝数对于识别预后不良可能性较高的患者也很重要。
