Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy.
Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy.
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DOI：
10.1038/tpj.2011.33
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发表时间：
2012-12
期刊：
影响因子：
--
通讯作者：
Toffoli G
中科院分区：
文献类型：
--
作者：
Biason P;Hattinger CM;Innocenti F;Talamini R;Alberghini M;Scotlandi K;Zanusso C;Serra M;Toffoli G
本研究的目的是探讨 NER 通路基因中常见多态性在骨肉瘤肿瘤发生以及对 DNA 损伤疗法（例如基于顺铂的新辅助疗法）的反应中的作用。使用 Kaplan-Meier 图和对数秩检验，分析了 130 名接受同质治疗的高级别骨肉瘤患者的 XPD（rs13181 和 rs1799793）、XPG（rs17655）和 ERCC1（rs3212986 和 rs11615）多态性与无事件生存 (EFS) 的关系。 XPD SNP 与 EFS 增加之间观察到正相关（HR= 0.34，95% CI 0.12-0.98 和 HR= 0.19，95% CI 0.05-0.77）。我们还针对发生骨肉瘤的相对风险进行了病例对照研究。与野生型患者相比，携带 XPD rs1799793 至少一个变异等位基因的患者患骨肉瘤的风险降低（OR = 0.55，95% CI 0.36-0.84）。这项研究表明，XPD rs1799793 可能是骨肉瘤的标志物，与铂类治疗后具有更好预后或更好结果或两者兼而有之的特征相关。
The aim of this study was to investigate the role of common polymorphisms in the NER pathway genes in the tumorigenesis of osteosarcoma and in the response to DNA damaging therapies, such as cisplatin-based neoadjuvant therapy. XPD (rs13181 and rs1799793), XPG (rs17655), and ERCC1 (rs3212986 and rs11615) polymorphisms were analysed in a group of 130 homogenously-treated patients with high-grade osteosarcoma for association with event free survival (EFS) using Kaplan-Meier plots and log-rank test. A positive association was observed between both XPD SNPs and an increased EFS (HR= 0.34, 95% CI 0.12-0.98 and HR= 0.19, 95% CI 0.05-0.77, respectively). We had also performed a case-control study for relative risk to develop osteosarcoma. Patients carrying at least one variant allele of XPD rs1799793 had a reduced risk of developing osteosarcoma compared to wild type patients (OR=0.55, 95% CI 0.36-0.84).This study suggests that XPD rs1799793 could be a marker of osteosarcoma associated with features conferring either a better prognosis or a better outcome after platinum therapy, or both.
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