【佳学基因检测】乳腺癌的进展可以产生HER-2基因扩增

做完基因检测 我不后悔！—科学性

查重分析三甲医师职称提升肿瘤学《肿瘤个性治疗的方法与措施》，意外获得《Proc Natl Acad Sci U S A》在. 2004 Jun 22;101(25):9393-8.发表了一篇题目为《HER-2基因扩增可以随着乳腺癌的进展而获得》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Songdong Meng, Debasish Tripathy, Sanjay Shete, Raheela Ashfaq, Barbara Haley, Steve Perkins, Peter Beitsch, Amanullah Khan, David Euhus, Cynthia Osborne, Eugene Frenkel, Susan Hoover, Marilyn Leitch, Edward Clifford, Ellen Vitetta, Larry Morrison, Dorothee Herlyn, Leon W M M Terstappen, Timothy Fleming, Tanja Fehm, Thomas Tucker, Nancy Lane, Jianqiang Wang, Jonathan Uhr等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

HER-2基因扩增,乳腺癌,进展,恶化,肿瘤检测

肿瘤靶向治疗基因检测临床应用结果

乳腺癌中 HER-2 癌基因的扩增和过表达被认为在疾病过程中是稳定的，并且在原发肿瘤和转移瘤之间是一致的。因此，HER-2阴性原发性肿瘤患者很少会接受抗Her-2抗体（曲妥珠单抗、赫赛汀）治疗。一种非常敏感的血液测试用于捕获循环肿瘤细胞 (CTC)，并通过荧光原位杂交评估其 HER-2 基因状态。 31 名患者的原发肿瘤和相应 CTC 的 HER-2 状态显示 97% 的一致性，没有假阳性。在 10 名 HER-2 阳性肿瘤患者中，每个肿瘤中 HER-2/染色体计数探针 17 的比率约为相应 CTC 的两倍（平均 6.64 +/- 2.72 对 2.8 +/- 0.6）。因此，CTC 的比率是原发肿瘤中预期的高比率的可靠替代标志物。 10 种 CTC 的 Her-2 蛋白表达足以对 19 名复发性乳腺癌患者的整个 CTC 人群的 HER-2 基因状态做出明确诊断。原发肿瘤为 HER-2 阴性的 24 名乳腺癌患者中有 9 名在癌症进展期间在其 CTC 中获得了 HER-2 基因扩增，即 37.5%（95% 置信区间为 18.8-59.4%）。 9 名患者中有 4 名接受了含赫赛汀的治疗。 1个完全反应，2个部分反应。

肿瘤发生与复发转移国际数据库描述：

Amplification and overexpression of the HER-2 oncogene in breast cancer is felt to be stable over the course of disease and concordant between primary tumor and metastases. Therefore, patients with HER-2-negative primary tumors rarely will receive anti-Her-2 antibody (trastuzumab, Herceptin) therapy. A very sensitive blood test was used to capture circulating tumor cells (CTCs) and evaluate their HER-2 gene status by fluorescence in situ hybridization. The HER-2 status of the primary tumor and corresponding CTCs in 31 patients showed 97% agreement, with no false positives. In 10 patients with HER-2-positive tumors, the HER-2/chromosome enumerator probe 17 ratio in each tumor was about twice that of the corresponding CTCs (mean 6.64 +/- 2.72 vs. 2.8 +/- 0.6). Hence, the ratio of the CTCs is a reliable surrogate marker for the expected high ratio in the primary tumor. Her-2 protein expression of 10 CTCs was sufficient to make a definitive diagnosis of the HER-2 gene status of the whole population of CTCs in 19 patients with recurrent breast cancer. Nine of 24 breast cancer patients whose primary tumor was HER-2-negative each acquired HER-2 gene amplification in their CTCs during cancer progression, i.e., 37.5% (95% confidence interval of 18.8-59.4%). Four of the 9 patients were treated with Herceptin-containing therapy. One had a complete response and 2 had a partial response.