Yu Alexander, Luikart Shelby, Huang Gengming, Han Song, Zhao Jianping, Soong Lynn, Dong Jianli
School of Medicine, University of Texas Medical Branch, Galveston, TX, USA.
Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA.
Cancer Med J. 2020;3(Suppl 1):39-46. Epub 2020 Nov 7.
Overexpression/amplification of erb-b2 receptor tyrosine kinase 2 (ERBB2) is a major prognostic factor in gastroesophageal cancers; it is currently the only biomarker established for the selection of targeted therapy for patients with advanced gastroesophageal adenocarcinoma (GEA). Current standard procedure for determining ERBB2 status in such patients is immunohistochemistry (IHC), followed by in situ hybridization (ISH), when IHC result is equivocal. Insufficient knowledge regarding the utilities of chromosomal microarray (CMA) has hindered its use as an adjunct tool in ERBB2 analysis. Here, we performed CMA on 7 formalin-fixed paraffin-embedded (FFPE) GEA specimens previously tested by ERBB2 fluorescence in situ hybridization (FISH) and evaluated the concordance and performance of CMA. CMA identified 4 (57.1%) samples with amplification of ERBB2, compared to 3 (42.9%) by FISH. CMA also detected several additional DNA copy number variants in these samples, which may have prognostic and therapeutic indications. Further case studies and clinical trials may provide evidence for the utility of CMA-based genomic studies in the management of patients with suspected ERBB2-positive gastroesophageal adenocarcinoma.
erb-b2受体酪氨酸激酶2（ERBB2）的过表达/扩增是胃食管癌的主要预后因素；它是目前唯一确定用于晚期胃食管腺癌（GEA）患者靶向治疗选择的生物标志物。目前，此类患者中确定ERBB2状态的标准程序是免疫组织化学（IHC），当IHC结果不明确时，再进行原位杂交（ISH）。关于染色体微阵列（CMA）效用的知识不足阻碍了其作为ERBB2分析辅助工具的应用。在此，我们对7个先前通过ERBB2荧光原位杂交（FISH）检测的福尔马林固定石蜡包埋（FFPE）GEA标本进行了CMA，并评估了CMA的一致性和性能。CMA鉴定出4个（57.1%）ERBB2扩增样本，而FISH鉴定出3个（42.9%）。CMA还在这些样本中检测到了几个额外的DNA拷贝数变异，这可能具有预后和治疗指示意义。进一步的病例研究和临床试验可能为基于CMA的基因组研究在疑似ERBB2阳性胃食管腺癌患者管理中的效用提供证据。
