Lassus Heini, Sihto Harri, Leminen Arto, Joensuu Heikki, Isola Jorma, Nupponen Nina N, Butzow Ralf
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, P.O. Box 700, (Haartmanink. 8), FIN-00029 HUS, Helsinki, Finland.
J Mol Med (Berl). 2006 Aug;84(8):671-81. doi: 10.1007/s00109-006-0054-4. Epub 2006 Apr 11.
EGFR and erbB-2 are targets for specific cancer therapy. The purpose of this study was to examine the frequency and clinicopathological correlations of gene amplification, protein expression, and mutations of EGFR and ERBB2 in serous carcinoma, the most common and aggressive type of ovarian cancer. Tissue microarray constructed of 398 carcinomas was examined by chromogenic in situ hybridization (CISH) and by immunohistochemistry. Cases with amplification of EGFR by CISH were further analyzed by fluorescence in situ hybridization. One hundred ninety-eight samples were analyzed for mutations in exons 18, 19, or 21 of EGFR and in exon 20 of ERBB2 using denaturating high-performance liquid chromatography and direct sequencing. Amplification of EGFR was present in 12% (41/333), low-level gain in 43% (144/333), and protein overexpression in 17% (66/379) of the tumors. Both increased copy number and overexpression of EGFR were associated with high tumor grade, greater patient age, large residual tumor size, high proliferation index, aberrant p53, and poor patient outcome. Furthermore, increased copy number of EGFR was associated with increased copy number of ERBB2. No mutations were identified in EGFR, whereas one tumor had an insertion mutation in exon 20 of ERBB2. Both amplification and protein overexpression of EGFR occur in serous ovarian carcinoma, but EGFR copy number has a stronger prognostic value. This makes EGFR amplification a potentially useful criterion for selecting patients in clinical trials testing the effect of EGFR inhibitors in serous ovarian carcinoma.
表皮生长因子受体(EGFR)和erbB-2是特定癌症治疗的靶点。本研究的目的是检测浆液性癌(卵巢癌最常见且侵袭性最强的类型)中EGFR和ERBB2的基因扩增、蛋白表达及突变的频率及其与临床病理的相关性。采用显色原位杂交(CISH)和免疫组织化学方法检测了由398例癌组织构建的组织芯片。对CISH检测显示EGFR扩增的病例进一步采用荧光原位杂交进行分析。使用变性高效液相色谱法和直接测序法对198个样本检测EGFR第18、19或21外显子以及ERBB2第20外显子的突变情况。12%(41/333)的肿瘤存在EGFR扩增,43%(144/333)为低水平增加,17%(66/379)的肿瘤有蛋白过表达。EGFR拷贝数增加和过表达均与肿瘤高级别、患者年龄较大、残余肿瘤体积大、增殖指数高、p53异常以及患者预后差相关。此外,EGFR拷贝数增加与ERBB2拷贝数增加相关。未在EGFR中鉴定到突变,而有1例肿瘤在ERBB2第20外显子存在插入突变。浆液性卵巢癌中存在EGFR扩增和蛋白过表达,但EGFR拷贝数具有更强的预后价值。这使得EGFR扩增成为在检测EGFR抑制剂对浆液性卵巢癌疗效的临床试验中选择患者的潜在有用标准。