Moorman Anthony V, Richards Sue M, Martineau Mary, Cheung Kan Luk, Robinson Hazel M, Jalali G Reza, Broadfield Zoe J, Harris Rachel L, Taylor Kerry E, Gibson Brenda E S, Hann Ian M, Hill Frank G H, Kinsey Sally E, Eden Tim O B, Mitchell Christopher D, Harrison Christine J
Leukaemia Research Fund Cytogenetics Group, Cancer Sciences Division, University of Southampton, MP 822, Duthie Bldg, Southampton General Hospital, Southampton, SO16 6YD, United Kingdom.
Blood. 2003 Oct 15;102(8):2756-62. doi: 10.1182/blood-2003-04-1128. Epub 2003 Jun 26.
High hyperdiploidy (HeH) (51 to 65 chromosomes) is found in one third of children with acute lymphoblastic leukemia and is associated with a good prognosis. Cytogenetic features may further refine this prognosis and identify patients with a poor outcome. We examined the effect of sex, age, individual trisomies, modal number, and structural abnormalities on survival among 700 children with HeH. Univariate analysis showed that age. sex, +4, +10, +18, and a high modal number were associated with survival. Multivariate analysis however, revealed that only age, sex, +4, and +18 were independent indicators. Hazard scores for predicting relapse and mortality were constructed. Three risk groups with 5-year event-free survival (EFS) rates of 86%, 75%, and 50% (P <.0001) were identified. The high-risk group comprised boys older than 9 years, boys aged 1 through 9 years without +18, and girls older than 9 years without +18, while girls aged 1 through 9 years with +18 had the best EFS. In terms of mortality, those younger than age 10 years with both +4 and +18 had an improved survival (96% vs 84% at 5 years, P <.0001). These findings confirm that the outcome of children with HeH is heterogeneous and that specific trisomies can identify patients with the greatest and least risk of treatment failure.
高三倍体（HeH）（51至65条染色体）在三分之一的急性淋巴细胞白血病儿童中被发现，且与良好的预后相关。细胞遗传学特征可能进一步优化这种预后并识别出预后不良的患者。我们研究了性别、年龄、个别三体、众数染色体数及结构异常对700例HeH儿童生存的影响。单因素分析显示年龄、性别、+4、+10、+18及高众数染色体数与生存相关。然而，多因素分析表明只有年龄、性别、+4及+18是独立指标。构建了预测复发和死亡的风险评分。确定了三个风险组，其5年无事件生存率（EFS）分别为86%、75%和50%（P<.0001）。高危组包括9岁以上男孩、1至9岁无+18的男孩以及9岁以上无+18的女孩，而1至9岁有+18的女孩EFS最佳。在死亡率方面，10岁以下同时有+4和+18的儿童生存有所改善（5年时为96%对84%，P<.0001）。这些发现证实HeH儿童的预后是异质性的，特定三体可识别出治疗失败风险最高和最低的患者。
