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目的探讨显色原位杂交(CISH)在检测乳腺癌中 HER2/neu 基因扩增上的作用。方法挑选乳腺浸润性导管癌患者组织石蜡蜡块(回顾性255例,前瞻性271例),进行免疫组织化学(IHC)、CISH 检测。15例回顾性标本送往德国 HERA 检测中心进行 FISH 检测。结果 (1)回顾性病例中 IHC 阳性3+者 CISH 基因扩增率为91.6%(120/131),IHC 2+者 CISH 基因扩增率为56.5%(39/69),IHC 与 CISH 检测结果符合率为81.2%(207/255),两者明显相关(P<0.01)。(2)前瞻性病例中 IHC 蛋白过表达率31.7%,CISH 基因扩增率27.3%。IHC 3+者 CISH 基因扩增率为91.4%(53/58),IHC 2+者 CISH 基因扩增率为46.4%(13/28),IHC 与 CISH 检测结果符合率为89.7%(243/271),两者明显相关(P<0.01)。(3)经德国检测中心荧光原位杂交(FISH)检测的15例中14例和 CISH 结果完全一致,1例检测失败,而 CISH 为无扩增。(4)CISH 检测基因扩增与雌激素受体(ER)、孕激素受体(PR)表达明显负相关(P 值均<0.01)。结论 CISH 检测 HER2基因扩增结果与IHC 检测蛋白过表达及 FISH 结果高度一致,CISH 是检测 HER2基因扩增的一项新技术。
Objective To investigate the role of chromosomal in situ hybridization (CISH) in the detection of HER2 / neu gene amplification in breast cancer. Methods Paraffin blocks were collected from patients with invasive ductal carcinoma of the breast (retrospectively 255 cases, prospectively 271 cases), and immunohistochemistry (IHC) and CISH were performed. 15 cases of retrospective specimens sent to the German HERA testing center for FISH detection. Results (1) In the retrospective cases, the amplification rate of CISH gene was 91.6% (120/131) in IHC positive 3+ patients and 56.5% (39/69) in IHC 2+ patients. The results of IHC and CISH The coincidence rate was 81.2% (207/255), the two were significantly related (P <0.01). (2) In the prospective cases, the overexpression rate of IHC protein was 31.7% and the rate of CISH gene amplification rate was 27.3%. IHC 3+ CISH gene amplification rate was 91.4% (53/58), IHC 2+ CISH gene amplification rate was 46.4% (13/28), IHC and CISH test results were consistent with the rate of 89.7% (243/271 ), The two were significantly related (P <0.01). (3) Fourteen of 15 cases detected by FISH were exactly the same as CISH. One case failed to detect and CISH did not amplify. (4) The amplification of CISH was negatively correlated with the expression of estrogen receptor (ER) and progesterone receptor (PR) (all P <0.01). Conclusion The results of CISH detection of HER2 gene amplification are highly consistent with IHC test protein overexpression and FISH results. CISH is a new technique to detect HER2 gene amplification.