Retrospective analysis of the association between human epidermal growth factor receptor 2 amplification and chromosome enumeration probe 17 status in patients with breast cancer

Hu,Xiaoyu; Li,Yanan; Yuan,Dong; Li,Ruohan; Kong,Lingquan; Li,Hongyuan; Yang,Zhu; Yu,Qiubo

doi:10.3892/ol.2017.6897

Retrospective analysis of the association between human epidermal growth factor receptor 2 amplification and chromosome enumeration probe 17 status in patients with breast cancer

Authors:
- Xiaoyu Hu
- Yanan Li
- Dong Yuan
- Ruohan Li
- Lingquan Kong
- Hongyuan Li
- Zhu Yang
- Qiubo Yu
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Affiliations: Molecular Medical Laboratory, Chongqing Medical University, Yuzhong, Chongqing 400016, P.R. China, Endocrine Breast Surgery, The First Affiliated Hospital, Chongqing Medical University, Yuzhong, Chongqing 400016, P.R. China
Published online on: September 6, 2017 https://doi.org/10.3892/ol.2017.6897
Pages: 5265-5270
Copyright: © Hu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to identify potential human epidermal growth factor receptor 2 (HER2) amplification, according to American Society of Clinical Oncology and the College of American Pathologists (ASCO/CAP) 2013 HER2 testing guidelines, in patients previously determined not to possess HER2 amplification, in accordance with previous 2007 guidelines. Potential discrepancies may arise from chromosome enumeration probe 17 (CEP17) amplification, deletion, polysomyor monosomy. HER2, CEP17, tumor protein p53 (TP53) and retinoic acid receptor α (RARA) genes from 67 patient specimens with suspected amplification, polysomy or monosomy of CEP17 were analyzed using fluorescence in situ hybridization. HER2 status was interpreted using 2007 and 2013 ASCO HER2 test guidelines as well as the reference genes TP53 and RARA. According to ASCO/CAP2007 HER2 guidelines, 20 patients exhibited HER2 amplification (29.85%), 41 were without HER2 amplification (including 25 with polysomy, 15 with monosomy and 1 with suspected monosomy plus co‑amplification of HER2 and CEP17) and the remaining 6 patients were equivocal. Using ASCO/CAP 2013 HER2 guidelines, 49 patients exhibited HER2 gene amplification (73.1%). The 29‑patient increase included 6 originally at equivocal levels but now demonstrating amplification, 22 originally with polysomy but now revealing co‑amplification, and 1 with suspected monosomy plus co‑amplification of HER2 and CEP17. According to TP53 and RARA, HER2 was amplified in 43 patients (64.1%). Using the revised guidelines, HER2, originally identified as amplified in 6 patients, was not amplified following the introduction of TP53 and RARA control genes. Among these 6, 4 possessed normal TP53 and RARA. The incidence of co‑amplification of HER2 and CEP17 was 1.4% (21/1,518). RARA and TP53 are suitable control genes to evaluate HER2 status.

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