乳腺癌和同步淋巴结转移中ERBB2状态不一致和全基因组DNA拷贝数改变:1例报告和文献综述

Cancer medicine journal Pub Date : 2021-04-01 Epub Date: 2020-05-12
Ruchi Singhal, Alexander Yu, Song Han, Hai Wu, Guangyu Li, Jing He, Jianli Dong
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引用次数: 0

摘要

Erb-b2受体酪氨酸激酶2 (ERBB2)是乳腺癌(BC)治疗中的生物标志物。据报道,大约5%的BC患者原发性和同步转移时ERBB2状态发生改变。在这里,我们描述了一名55岁的女性,她有左侧BC病史,并于2019年再次被诊断为右侧BC,乳房组织中检测了ER-、PR-、ERBB2+,右腋下淋巴结检测了三阴性。采用染色体微阵列(CMA)检测右侧BC及淋巴结转移灶;与淋巴结标本相比,BC标本的DNA拷贝数发生了更多的改变,这表明淋巴结转移不是直接起源于右侧BC的显性肿瘤克隆。本病例强调了原发性和转移性标本中ERBB2状态的不一致,可以从评估ERBB2中获益。该病例也证明了使用CMA来帮助理解乳腺癌转移的克隆进化的价值,特别是当原发和转移病变之间的生物标志物结果不一致时。
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Discordant ERBB2 Status and Genome Wide DNA Copy Number Alterations in Breast Cancer and Synchronous Lymph Node Metastasis: A Case Report and Literature Review.

Erb-b2 receptor tyrosine kinase 2 (ERBB2) is a biomarker in the management of breast cancer (BC). Changes of ERBB2 status in primary and synchronous metastasis have been reported in approximately 5% of BC. Here we describe a 55-years-old female with a history of left-side BC and again diagnosed in 2019 with right-side BC tested ER-, PR-, ERBB2+ in breast tissue and triple negative in right axillary lymph node. The right BC and lymph node metastasis samples were tested by chromosomal microarray (CMA); the BC sample harbored more DNA copy number alterations than the lymph node specimen, suggesting that the lymph node metastasis was not directly originating from a dominant tumor clone in the right BC. This case highlights discordant ERBB2 status that can benefit from assessment of ERBB2 in both primary and metastatic specimens. This case also demonstrates the value of using CMA to help understand the clonal evolution of breast cancer metastasis especially when there are discordant biomarker results between primary and metastatic lesions.

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