Tanaka Ryota, Sasajima Yuko, Tsuda Hitoshi, Namikawa Kenjiro, Takahashi Akira, Tsutsumida Arata, Fujisawa Yasuhiro, Fujimoto Manabu, Yamazaki Naoya
Department of Dermatologic Oncology, National Cancer Center Hospital, Tokyo, Japan.
Department of Dermatology, Tsukuba University, Ibaraki, Japan.
Clin Exp Metastasis. 2016 Oct;33(7):687-97. doi: 10.1007/s10585-016-9804-z. Epub 2016 Jun 11.
Recent studies have reported the overexpression of human epidermal growth factor receptor 2 (HER2) in primary extramammary Paget disease (EMPD). These results indicate that therapies that target HER2 may be useful in treating metastatic EMPD, for which the prognosis is poor. However, there is limited information on the expression and gene amplification of HER2 in metastatic EMPD. Twenty-six corresponding lymph node metastatic sites of primary EMPD underwent immunohistochemical evaluation of HER2 protein overexpression. In cases of HER2 protein overexpression, further analysis into the amplification of the HER2 gene was undertaken using dual colored in situ hybridization. In the corresponding lymph node metastasis of EMPD, HER2 protein overexpression and gene amplification were detected in 38 % and 19 % of cases, respectively. In 22 out of 26 cases (85 %), there were no differences in HER2 protein overexpression between the primary tumors and the corresponding lymph node metastasis (kappa coefficient 0.65). Likewise, HER2 gene amplification status was concordant in 92 % of cases (kappa coefficient 0.75). HER2 status is in good overall concordance between primary tumors and the corresponding metastatic sites. As there was a discrepancy in a minority of cases, HER2 status should be evaluated at both the primary and the metastatic sites, whenever possible.
近期研究报道了人表皮生长因子受体2（HER2）在原发性乳腺外佩吉特病（EMPD）中的过表达。这些结果表明，针对HER2的治疗方法可能对治疗转移性EMPD有用，而转移性EMPD的预后较差。然而，关于HER2在转移性EMPD中的表达和基因扩增的信息有限。对26个原发性EMPD相应的淋巴结转移部位进行了HER2蛋白过表达的免疫组化评估。对于HER2蛋白过表达的病例，使用双色原位杂交进一步分析HER2基因的扩增情况。在EMPD相应的淋巴结转移中，分别在38%和19%的病例中检测到HER2蛋白过表达和基因扩增。在26例中的22例（85%）中，原发性肿瘤与相应的淋巴结转移之间HER2蛋白过表达无差异（kappa系数为0.65）。同样，92%的病例中HER2基因扩增状态一致（kappa系数为0.75）。原发性肿瘤与相应转移部位之间的HER总体状态一致性良好。由于少数病例存在差异，因此只要有可能，应在原发性和转移部位同时评估HER2状态。
