Elvia

In May 2021, 60-year-old Elvia went in for a routine mammogram. Because Elvia has a history of fibrosis, she was not surprised that her doctors requested additional studies. She was then advised to have a biopsy. A standard IHC testing from that biopsy was consistent with a diagnosis of triple-negative breast cancer. Based on these results, Elvia started neoadjuvant treatment with pembrolizumab plus chemotherapy and plans for surgery were underway. However, scheduling surgery proved to be challenging due to a COVID diagnosis and her surgeon’s availability so Elvia transferred her care in late September 2021. Her new physician collected more scans, which indicated the tumor was progressing on the current regimen. To see a complete 360° view of her tumor, her doctor requested the BostonGene Tumor PortraitTMtest, which revealed the cancer was not triple-negative and was, in fact, HER2 positive. When thinking back, Elvia says, “I cried when I heard the diagnosis.” These findings offered HER2-targeted treatment options, prompting a change to TCHP neoadjuvant therapy in January 2022. Repeat scans two months later during neoadjuvant therapy demonstrated 80% tumor shrinkage with this new HER2-directed treatment plan. After completion of neoadjuvant therapy, Elvia underwent surgery and was found to have a complete pathological response. For Elvia, integrated WES and RNA-seq analysis uncovered significant HER2 findings that were not found by the initial IHC test. When asked how she’s doing today, Elvia says, “Great, and I’ve been great since I got this new diagnosis. Everything was suddenly clear, like I woke up from a dream.”