Zsombor Melegh, Erzsébet Csernák, Andrea Kohánka, Mónika Rubovszkyné Gallai, Eszter Bencze, Melinda Szőke, Luca Pap, Andrea Simon, Zsófia Küronya, Krisztina Biró, Lajos Géczi, Erika Tóth
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引用次数: 0
摘要
PARP 抑制剂疗法预期疗效的最佳预测指标是 BRCA1/2 或其他同源重组修复基因的突变。这些检测是常规分子病理学诊断的一部分。在 281 名前列腺癌患者中,21.4% 的患者发现了其中一个基因的体细胞致病突变。28.5%的患者检测不成功;检测成功的主要限制因素是石蜡块的年龄和 DNA 浓度较低。在 BRCA1/2 检测中,5 年以上样本的成功率明显降低,而在涉及更多同源重组修复基因的检测中,2 年以上样本的成功率明显降低。因此,在初诊时对高风险前列腺癌进行检测非常重要,在不久的将来,循环肿瘤 DNA 的液体活检检测也可能在安全诊断中发挥重要作用。
[Mutation frequency of homologous recombination repair genes in prostate adenocarcinomas].
The best predictive marker for the expected efficacy of PARP inhibitor therapy is mutations in BRCA1/2 or other homologous recombination repair genes. These tests are part of routine molecular pathology diagnostics. Among 281 patients with prostate adenocarcinoma, somatic pathogenic mutations in one of these genes were identified in 21.4% of patients. In 28.5% of the patients, the test was unsuccessful; the main limitation of successful testing was the age of the paraffin blocks and low DNA concentration. In the case of BRCA1/2 testing, the success rate was significantly reduced for samples older than 5 years, while in tests involving a broader set of homologous recombination repair genes, the success rate was significantly reduced for samples older than 2 years. Therefore, it is very important to test high-risk prostate cancers at the time of primary diagnosis, and probably also liquid biopsy testing of circulating tumor DNA will play an important role in safe diagnosis in the near future.