Novel targetable biomarkers in clear cell carcinoma of the breast uncovered by molecular profiling: A study of nine cases.
Faruk SkenderiJuan PalazzoJeffrey SwensenRebecca FeldmanElma ContrerasElena FlorentoZoran GatalicaSemir VranicPublished in: The breast journal (2020)
We profiled nine pure clear cell carcinomas of the breast using massively parallel DNA and RNA sequencing (NGS), in situ hybridization (ISH), and immunohistochemistry (IHC). All cases were primary mammary clear cell carcinomas that were diagnosed in female patients (mean age: 53.4 years; range: 31-69 years). Based on our findings, we conclude that the majority of clear cell carcinomas are ER/PR positive and consequently amenable to anti-ER treatment modalities. A subset of clear cell carcinomas also harbored alterations in PIK3CA/PTEN/AKT pathway, particularly PTEN, indicating a potential benefit of PI3K/Akt/mTOR inhibitors. The status of I-O biomarkers in clear cell carcinomas indicates a limited therapeutic benefit of immune checkpoint inhibitors (against PD-1/PD-L1).
Keyphrases
- clear cell
- high grade
- cell proliferation
- end stage renal disease
- single cell
- chronic kidney disease
- newly diagnosed
- prognostic factors
- pi k akt
- single molecule
- breast cancer cells
- risk assessment
- endoplasmic reticulum
- circulating tumor
- human health
- combination therapy
- patient reported outcomes
- patient reported
- circulating tumor cells
- protein kinase