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BCL2-938 C > A启动子多态性与急性淋巴细胞白血病患儿的危险组分类相关。

The BCL2-938 C > A promoter polymorphism is associated with risk group classification in children with acute lymphoblastic leukemia.

作者信息

Künkele Annette, Grosse-Lordemann Anja, Schramm Alexander, Eggert Angelika, Schulte Johannes H, Bachmann Hagen S

机构信息

Department of Pediatric Hematology-Oncology, University Hospital Essen, Hufelandstrasse 55, 45147, Essen, Germany.

出版信息

BMC Cancer. 2013 Oct 2;13:452. doi: 10.1186/1471-2407-13-452.

Abstract

BACKGROUND

Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While current treatment regimens achieve almost 80% overall survival, long-term side effects of chemotherapeutic agents can be severe. The functional BCL2-938C > A promoter polymorphism is known to influence the balance between survival and apoptosis of malignant hematolymphoid cells. We investigated its usefulness as a marker for treatment stratification for children with ALL.

METHODS

We analyzed DNA from 182 children suffering from ALL in this study to determine genotypes of the -938 C > A polymorphism by "slow-down" PCR.

RESULTS

ALL patients with the BCL2-938CC genotype had an approximately 3-fold higher risk of belonging to a high-risk group. Within the high-risk group, 50% of BCL2-938CC patients were classified as high-risk due to poor prednisone response whereas only 33% of patients with AC and AA genotypes were classified as high-risk for the same reason.

CONCLUSIONS

Our results suggest that BCL2-938C > A genotyping may be beneficial for therapy response prediction in ALL patients, and warrant examination in a larger cohort to validate its usefulness for treatment stratification of pediatric ALL patients.

摘要

背景

急性淋巴细胞白血病(ALL)是最常见的儿童癌症。虽然目前的治疗方案可使总体生存率达到近80%,但化疗药物的长期副作用可能很严重。已知功能性BCL2 - 938C>A启动子多态性会影响恶性血液淋巴细胞的生存和凋亡平衡。我们研究了其作为ALL患儿治疗分层标志物的实用性。

方法

在本研究中,我们分析了182例ALL患儿的DNA,通过“慢扩增”PCR确定 - 938 C>A多态性的基因型。

结果

BCL2 - 938CC基因型的ALL患者属于高危组的风险大约高3倍。在高危组中,50%的BCL2 - 938CC患者因泼尼松反应不佳被归类为高危,而因相同原因,AC和AA基因型患者中只有33%被归类为高危。

结论

我们的结果表明,BCL2 - 938C>A基因分型可能有助于预测ALL患者的治疗反应,并且有必要在更大的队列中进行检查,以验证其对儿童ALL患者治疗分层的实用性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b92/3850706/e6bc682ed0ff/1471-2407-13-452-1.jpg

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