Droplet digital PCR using HER2/EIF2C1 ratio for detection of HER2 amplification in breast cancer tissues

Breast cancers with amplification and overexpression of human epithelial growth factor receptor 2 (HER2) are associated with poor prognosis, and targeted for anti-HER2 therapy. Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) are currently the recommended methods to asses HER...

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Published in:Medical oncology (Northwood, London, England) London, England), 2018-12, Vol.35 (12), p.149-6, Article 149
Main Authors: Tantiwetrueangdet, Anchalee, Panvichian, Ravat, Wongwaisayawan, Sansanee, Sueangoen, Natthaporn, Lertsithichai, Panuwat
Format: Article
Language:English
Subjects:
Argonaute Proteins - genetics
Biomarkers, Tumor - genetics
Breast cancer
Breast Neoplasms - diagnosis
Breast Neoplasms - genetics
Eukaryotic Initiation Factors - genetics
Female
Gene Amplification
Hematology
Humans
In Situ Hybridization, Fluorescence
Internal Medicine
Medicine
Medicine & Public Health
Middle Aged
Oncology
Original Paper
Pathology
Polymerase Chain Reaction - methods
Prognosis
Receptor, ErbB-2 - genetics
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Summary:Breast cancers with amplification and overexpression of human epithelial growth factor receptor 2 (HER2) are associated with poor prognosis, and targeted for anti-HER2 therapy. Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) are currently the recommended methods to asses HER2 overexpression/amplification. Droplet digital PCR (ddPCR), a highly accurate method to quantify DNA copy number, is potentially a robust alternative for HER2 diagnostics. In the FISH assay and most of previous ddPCR reports, chromosome 17 centromere (CEP17) has been used as the reference control to determine HER2/CEP17 ratio. Nevertheless, miss-classification could occur when HER2 is co-amplified with CEP17. To avoid this inherent defect, in the present study, we employed ddPCR assay using the human eukaryotic translation initiation factor 2C1 (EIF2C1) gene located at chromosome 1p34.3 as the reference control to quantify HER2 copy number in 31 frozen breast cancer tissues. HER2 status of these samples had been determined by FISH and classified as HER2-amplified and HER2-non-amplified breast cancers. The results showed that HER2 determined by ddPCR using HER2/EIF2C1 ratio was in good concordance with HER2 determined by FISH using HER2/CEP17 ratio, the concordance rate 87.1% (27/31), Kappa  = 0.719. The sensitivity and specificity of ddPCR assay was 90% (9/10) and 85.7% (18/21), respectively. The median HER2/EIF2C1 copy number ratio in HER2-amplified cancers (6.55, range 1.3–17.3) was significantly higher than in HER2-non-amplified cancers (1.05, range 0.6–3.6, p  
ISSN:1357-0560
1559-131X
DOI:10.1007/s12032-018-1210-8