Evaluation of Next Generation Sequencing for Detecting HER2 Copy Number in Breast and Gastric Cancers

• DOI: 10.1007/s12253-020-00844-w
• Publication Date: 2020-07-03T14:03:34Z
• Authors: Dongfeng Niu; Lei Li; Yang Yu; Wanchun Zang; Zhongwu Li; Lixin Zhou; Ling Jia; Guanhua Rao; Lianju Gao; Gang Cheng; Ke Ji; Dongmei Lin
• Keywords: Concordance; Amplicon

Amplicon-based next generation sequencing (NGS) approaches have been preferentially adopted by the clinical laboratories on basis of a short turnaround time (TAT) and small DNA input needs. However, little work has done to assess amplicon-based NGS methods for copy number variation (CNV) detection in comparison with current standard like immunohistochemistry (IHC) fluorescence situ hybridization (FISH). The correlation between based CNV later remained unexplored. We developed an panel detect human epidermal receptor growth factor (HER2) amplification formalin-fixed paraffin-embedded (FFPE) tumor tissue samples from 280 breast cancer 50 gastric patients. Assessment IHC FISH was conducted parallel, descriptive statistics were used concordance. detected correlated either average HER2 (signals/cell) (r = 0.844; p < 0.001) or HER2/CEP17 ratio 0.815; 0.001). determined cut-off value categorize status using 151 non-amplified FFPE samples. In patients, 2.910, 95.35%, 98.67% 97.29% sensitivity, specificity concordance, respectively. this displayed low sensitivity patients (64.71%), following macrodissection procedure not effective increasing (57.14%). Evaluation our study comparable but concordance only moderate. greater discordance may reflect underlying biological mechanisms, further is warranted. NGS-based assessment decrease equivocal determinations assessed FISH/IHC.