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北欧儿童急性淋巴细胞白血病协作组方案治疗的伴有 t(1;19)(q23;p13)的儿童前 B 细胞急性淋巴细胞白血病 47 例的临床和细胞遗传学特征。

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.

机构信息

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

出版信息

Br J Haematol. 2011 Oct;155(2):235-43. doi: 10.1111/j.1365-2141.2011.08824.x. Epub 2011 Sep 9.

Abstract

The translocation t(1;19)(q23;p13)/der(19)t(1;19) is a risk stratifying aberration in childhood B-cell precursor acute lymphoblastic leukaemia (BCP ALL) in the Nordic countries. We have identified 47 children/adolescents with t(1;19)/der(19)t(1;19)-positive BCP ALL treated on two successive Nordic Society of Paediatric Haematology and Oncology (NOPHO) protocols between 1992 and 2007 and have reviewed the clinical and cytogenetic characteristics of these cases, comprising 1·8% of all cases. The translocation was balanced in 15 cases (32%) and unbalanced in 29 cases (62%). The most common additional chromosome abnormalities were del(9p), i(9q), del(6q), and del(13q). The median age was 7 years, the median white blood cell (WBC) count was 16 × 10(9)/l, and the female/male ratio was 1·2. The predicted event-free survival (EFS) at 5 and 10 years was 0·79, whereas the predicted overall survival (OS) at 5 and 10 years was 0·85 and 0·82, respectively. Nine patients had a bone marrow relapse after a median of 23 months; no patient had a central nervous system relapse. Additional cytogenetic abnormalities, age, gender, WBC count or whether the t(1;19) was balanced or unbalanced did not influence EFS or OS. Compared to cases with t(12,21) and high hyperdiploidy, EFS was similar, but overall survival was worse in patients with t(1;19)/der(19)t(1;19) (P = 0·004).

摘要

t(1;19)(q23;p13)/der(19)t(1;19) 易位是北欧国家儿童 B 细胞前体急性淋巴细胞白血病 (BCP ALL) 的一种风险分层异常。我们已经确定了 47 例在 1992 年至 2007 年期间连续两个北欧儿科血液学和肿瘤学学会 (NOPHO) 方案中接受治疗的 t(1;19)/der(19)t(1;19)-阳性 BCP ALL 患儿/青少年,回顾了这些病例的临床和细胞遗传学特征,占所有病例的 1.8%。易位在 15 例(32%)中为平衡,在 29 例(62%)中为不平衡。最常见的额外染色体异常是 del(9p)、i(9q)、del(6q) 和 del(13q)。中位年龄为 7 岁,中位白细胞 (WBC) 计数为 16×10(9)/l,女性/男性比例为 1.2。5 年和 10 年的预测无事件生存 (EFS) 分别为 0.79,而 5 年和 10 年的预测总生存 (OS) 分别为 0.85 和 0.82。9 例患者在中位时间为 23 个月后骨髓复发;无中枢神经系统复发。额外的细胞遗传学异常、年龄、性别、WBC 计数或易位是否平衡或不平衡均不影响 EFS 或 OS。与 t(12,21)和高超二倍体患者相比,EFS 相似,但 t(1;19)/der(19)t(1;19) 患者的总生存更差 (P=0.004)。

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