Comparative analysis of HER2 copy number between plasma and tissue samples in gastric cancer using droplet digital PCR

Sci Rep. 2020 Mar 6;10(1):4177. doi: 10.1038/s41598-020-60897-4.

Abstract

In this study, we measured the human epidermal growth factor receptor 2 (HER2) copy number in both tissue and plasma samples of gastric cancer patients by using droplet digital polymerase chain reaction (ddPCR) method. Eighty gastric cancer patients were enrolled and both formalin-fixed and paraffin-embedded tissue and preoperative plasma samples were collected. HER2 status was determined by HER2 immunohistochemistry (IHC)/silver in situ hybridization (SISH) in tissue samples and ddPCR of the target gene HER2 and the reference gene eukaryotic translation initiation factor 2C, 1 in both tissue and plasma. The concordance rate of tissue HER2 status determined by IHC/SISH and HER2 ddPCR was 90.0% (72/80), and the sensitivity and specificity of tissue ddPCR were 85.0% and 95.0%, respectively. The concordance rate of plasma ddPCR and IHC/SISH was 63.8% (51/80). The sensitivity, specificity, positive predictive value, and negative predictive value of plasma HER2 ddPCR were 37.5%, 90.0%, 79.0%, and 59.0%, respectively. As HER2 measurement by tissue ddPCR showed a high concordance rate with HER2 status by IHC/SISH, it could replace tissue IHC/SISH testing in gastric cancer. These findings may contribute to the development of tissue and plasma HER2 testing that would be useful in daily practice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell-Free Nucleic Acids / blood
  • DNA Copy Number Variations / genetics
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Polymerase Chain Reaction / methods*
  • Receptor, ErbB-2 / genetics*
  • Receptor, ErbB-2 / metabolism*
  • Stomach Neoplasms / blood*
  • Stomach Neoplasms / genetics*

Substances

  • Cell-Free Nucleic Acids
  • Receptor, ErbB-2