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中国新诊断的急性淋巴细胞白血病(一):1346 例儿童和成人病例的异常遗传模式及其与西方国家报告的比较。

Newly diagnosed acute lymphoblastic leukemia in China (I): abnormal genetic patterns in 1346 childhood and adult cases and their comparison with the reports from Western countries.

机构信息

State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

出版信息

Leukemia. 2012 Jul;26(7):1608-16. doi: 10.1038/leu.2012.26. Epub 2012 Feb 7.

DOI:10.1038/leu.2012.26
PMID:22382891
Abstract

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.

摘要

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。

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