CEINGE, Centro di Ingegneria Genetica e Biotecnologia Avanzate, Naples, Italy.
BMC Cancer. 2011 Apr 11;11:126. doi: 10.1186/1471-2407-11-126.
Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage. Here, we sought to isolate cell-free DNA released into the plasma of patients with esophageal carcinoma, to analyze copy number variations of marker genes in the search for early detection of tumor progression.
Plasma of 41 patients with esophageal carcinoma was prospectively collected before tumor resection and chemotherapy. Our dataset resulted heterogeneous for clinical data, resembling the characteristics of the tumor. DNA from the plasma was extracted to analyze copy number variations of the erbB2 gene using real-time PCR assays.
The real-time PCR assays for erbB2 gene showed significant (P = 0.001) copy number variations in the plasma of patients with esophageal carcinoma, as compared to healthy controls with high sensitivity (80%) and specificity (95%). These variations in erbB2 were negatively correlated to the progression free survival of these patients (P = 0.03), and revealed a further risk category stratification of patients with low VEGF expression levels.
The copy number variation of erbB2 gene from plasma can be used as prognostic marker for early detection of patients at risk of worse clinical outcome in esophageal cancer.
食管癌患者的死亡率很高，因为肿瘤在进展到晚期之前很少被发现。在这里，我们试图分离出食管癌患者血浆中释放的无细胞 DNA，分析标记基因的拷贝数变异，以寻找肿瘤进展的早期检测。
前瞻性收集了 41 例食管癌患者在肿瘤切除和化疗前的血浆。我们的数据集在临床数据方面存在异质性，与肿瘤的特征相似。从血浆中提取 DNA，使用实时 PCR 检测分析 erbB2 基因的拷贝数变异。
与健康对照组相比，食管癌患者血浆中的 erbB2 基因实时 PCR 检测显示出显著的（P=0.001）拷贝数变异，具有高灵敏度（80%）和特异性（95%）。这些 erbB2 的变化与这些患者的无进展生存期呈负相关（P=0.03），并进一步对 VEGF 表达水平较低的患者进行了风险分层。
血浆中 erbB2 基因的拷贝数变异可作为预测标志物，用于早期检测食管癌患者中临床预后较差的风险。
