Patient: 52 years – Female with recurrent metastatic breast carcinoma (ER+, HER2–)
Clinical Testing:
Alterations: ESR1 (mutation), PIK3CA (VUS)
Genes: ESR1, PIK3CA
Treatment Options: Sequential use of SERD/AI ± CDK4/6 inhibitors ± PI3K/AKT/mTOR inhibitors, guided by longitudinal NGS findings and molecular evolution.
Indication: Metastatic recurrent breast carcinoma with acquired resistance to endocrine therapy, chemotherapy, and targeted agents.
Research Findings: Longitudinal liquid biopsy revealed evolving ESR1 and PIK3CA alterations, highlighting adaptive resistance mechanisms and supporting the role of serial NGS in guiding therapy sequencing and optimizing outcomes in heavily pre-treated breast cancer.