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Abstract
Introduction/Background While immunohistochemistry and in-situ hybridization (ISH) respectively assess protein and DNA biomarkers, and are widely employed in breast cancer (BC) diagnosis, the routine use of in situ RNA analysis for gene expression profiling is not common. Overexpression of the human epidermal growth factor receptor 2 (HER2) in BC is detected in around 20–30% of cases and is associated with a more aggressive disease, but is sensitive to anti-HER2 targeted therapeutic drugs.
Methodology We comprehensively reviewed the scientific literature using PubMed and Google Scholar databases to highlight the potential contributions of RNAscope technology in assessing HER2 status in BC. Keywords ‘RNAscope’ AND ‘breast cancer’ AND ‘Her2’ were used.
Results Described since 2012, RNAscope is an RNA ISH assay for spatial gene expression that permits the detection of target RNA using a patented probe design. This design concept improves the signal-to- background noise ratio of RNA hybridization, guarantees selective amplification of target-specific signals and allows the visualization of individual RNA molecules in Formalin-Fixed Paraffin-Embedded (FFPE) tissue specimens. RNAscope brings the advantages of in situ RNA analysis without RNA extraction. Through a recent systematic review, RNAscope was found to be a reliable, specific and sensible method that could be used as a complementary method to improve clinical diagnostics, to measure gene expression levels, or for gene detection while assessing histopathological samples. Recent papers revealed a new interest in the use of RNAscope assays for HER2 RNA expression quantification/qualification in BC, probably due to the need of a more comprehensive HER2 scoring.
Conclusion Accumulating evidence through our review has underscored the significant complementary role of RNAscope technology in stratifying HER2 status within tissue samples in BC and brought the attention towards its promising potential in this regard.
Disclosures None.
