From Haemorrhagic Shock to Years of Survival: A Case Report of PIK3CA-Mutated Estrogen Receptor-Positive and Human Epidermal Growth Factor Receptor 2-Negative (ER+/HER2-) Metastatic Breast Cancer With Satellite Lesions

从出血性休克到多年生存:一例PIK3CA突变型雌激素受体阳性、人表皮生长因子受体2阴性(ER+/HER2-)伴卫星病灶的转移性乳腺癌病例报告

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Abstract

Metastatic hormone-receptor-positive (HR+) human epidermal growth factor receptor-2-negative (HER2-) breast cancer remains the most common subtype of metastatic breast cancer, and is increasingly approached as a chronic condition. Genomic alterations in this disease subtype can create opportunities for targeted intervention, and advances in systemic therapy and radiotherapy have extended survival. However, real-world management continues to be shaped by treatment-related toxicities, cost considerations, and the evolving nature of tumour biology. We describe a 69-year-old Georgian woman who presented in haemorrhagic shock due to a neglected ulcerated breast mass and was subsequently found to have de novo stage IV HR+/HER2- metastatic breast cancer. She achieved a partial remission with induction docetaxel, but over three years she required multiple lines of systemic therapy, including sequential endocrine agents, cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor ribociclib, capecitabine, and eventually the PI3Kα inhibitor alpelisib following identification of an exon 9 PIK3CA mutation on next-generation sequencing. Alpelisib had to be discontinued because of severe hyperglycaemia. The case illustrates how repeated biopsies and genomic profiling can reveal actionable targets yet highlights the difficulties in balancing efficacy, toxicity, cost, and patient preferences. It also underscores the importance of multidisciplinary care, judicious use of palliative radiotherapy, and advocacy for equitable access to modern therapies.

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