Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA.
Hum Pathol. 2010 Jun;41(6):914-7. doi: 10.1016/j.humpath.2009.10.022. Epub 2010 Mar 24.
We report a case of a patient with invasive breast carcinoma that demonstrated HER-2 gene amplification on core biopsy, who relapsed while on adjuvant trastuzumab therapy after her mastectomy and ultimately died 15 months after diagnosis. Surprisingly, analysis of multiple metastases harvested at rapid autopsy demonstrated no evidence of HER-2 gene amplification. Retrospective examination of the carcinoma in the patient's mastectomy specimen revealed only focal HER-2 amplification within the tumor, localized to the region of the prior core biopsy site. This case highlights several important issues in HER-2 testing of breast cancer, including core biopsy-excision specimen discordance, primary-metastasis discordance, and potential selection for unamplified portions of a heterogeneously amplified tumors by trastuzumab.
我们报告了一例浸润性乳腺癌患者，其在核心活检中显示 HER-2 基因扩增，在接受辅助曲妥珠单抗治疗后于乳房切除术后复发，并在诊断后 15 个月死亡。令人惊讶的是，快速尸检采集的多个转移灶的分析显示没有 HER-2 基因扩增的证据。对患者乳房切除标本中的癌进行回顾性检查仅显示肿瘤内存在局灶性 HER-2 扩增，局限于先前核心活检部位的区域。该病例强调了乳腺癌 HER-2 检测中的几个重要问题，包括核心活检-切除标本不一致、原发灶-转移灶不一致以及曲妥珠单抗选择异质性扩增肿瘤的未扩增部分的潜在选择。
