State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Leukemia. 2012 Jul;26(7):1608-16. doi: 10.1038/leu.2012.26. Epub 2012 Feb 7.
It has been generally acknowledged that the diagnosis, treatment and prognosis evaluation of leukemia largely rely on an adequate identification of genetic abnormalities. A systemic analysis of genetic aberrations was performed in a cohort of 1346 patients with newly diagnosed acute lymphoblastic leukemia (ALL) in China. The pediatric patients had higher incidence of hyperdiploidy and t(12;21) (p13;q22)/ETV6-RUNX1 than adults (P<0.0001); in contrast, the occurrence of Ph and Ik6 variant of IKZF1 gene was much more frequent in adult patients (all P<0.0001). In B-ALL, the existence of Ik6 and that of BCR-ABL were statistically correlated (P<0.0001). In comparison with Western cohorts, the incidence of t(9;22) (q34;q11)/BCR-ABL (14.60%) in B-ALL and HOX11 expression in T-ALL (25.24%) seemed to be much higher in our group, while the incidence of t(12;21) (p13;q22)/ETV6-RUNX1 (15.34%) seemed to be lower in Chinese pediatric patients. The occurrence of hyperdiploidy was much lower either in pediatric (10.61% vs 20-38%) or adult patients (2.36% vs 6.77-12%) in our study than in Western reports. In addition, the frequencies of HOX11L2 in adult patients were much higher in our cohort than in Western countries (20.69% vs 4-11%). In general, it seems that Chinese ALL patients bear more adverse prognostic factors than their Western counterparts do.
已普遍认为,白血病的诊断、治疗和预后评估在很大程度上依赖于对遗传异常的充分识别。在中国,对 1346 例新诊断的急性淋巴细胞白血病(ALL)患者进行了系统的遗传异常分析。儿科患者的超二倍体和 t(12;21)(p13;q22)/ETV6-RUNX1 的发生率高于成人(P<0.0001);相反,Ph 和 IKZF1 基因的 Ik6 变体在成年患者中更为常见(均 P<0.0001)。在 B-ALL 中,Ik6 的存在与 BCR-ABL 的存在具有统计学相关性(P<0.0001)。与西方队列相比,我们组的 B-ALL 中 t(9;22)(q34;q11)/BCR-ABL(14.60%)和 T-ALL 中 HOX11 表达(25.24%)的发生率似乎更高,而儿童患者中 ETV6-RUNX1(15.34%)的发生率似乎更低。我们的研究中,儿科(10.61%对 20-38%)或成年患者(2.36%对 6.77-12%)的超二倍体发生率均低于西方报道。此外,我们队列中成年患者 HOX11L2 的发生率明显高于西方国家(20.69%对 4-11%)。总体而言,中国 ALL 患者似乎比西方患者具有更多的不良预后因素。