The history and findings in this case are suggestive of advanced/metastatic breast cancer.
Breast cancer is the most frequently diagnosed life-threatening cancer and the second-leading cause of cancer-related deaths in women worldwide. In the United States, an estimated 287,850 new cases of invasive breast cancer were diagnosed in 2022 and 43,250 women died of the disease. Globally, approximately 2.3 million new diagnoses and 685,000 breast cancer–related deaths were reported in 2020.
Tumor size, nodal spread, and distant metastases (TNM) at the time of diagnosis are key prognostic factors. Immunohistochemistry tumor markers (ie, estrogen receptor [ER], progesterone receptor [PR], and HER2), as well as grade and Ki-67 expression, have also been shown to be independent predictors of breast cancer death and are used together with TNM to guide treatment decisions.
Despite advances in breast cancer diagnosis and treatment, metastatic recurrence remains a significant problem. Although the incidence of distance relapse is declining and survival times for patients with recurrent disease are improving, 20%-30% of patients with early breast cancer still die of metastatic disease. Metastatic breast cancer recurrence can arise months to decades after initial diagnosis and treatment.
According to the National Comprehensive Cancer Network (NCCN) guidelines, biopsy is a critical component of the workup for patients with recurrent or stage IV disease. This is because biopsy ensures accurate determination of metastatic/recurrent disease and tumor histology and enables biomarker determination and selection of appropriate treatment. Soft-tissue tumor biopsy is preferred over bone sites unless a portion of the biopsy can be protected from harsh decalcification solution to preserve more accurate evaluation of biomarkers. Determination of HR status (ER and PR) and HER2 status should be repeated in all cases when diagnostic tissue is obtained because ER and PR assays may be falsely negative or falsely positive, and there may be discordance between the primary and metastatic tumors. According to the NCCN panel, re-testing the receptor status of recurrent disease should be performed, particularly when it was previously unknown, originally negative, or not overexpressed.
Additionally, the staging evaluation of patients who present with recurrent or stage IV breast cancer should include history and physical exam; a complete blood cell count, liver function tests, chest diagnostic CT, bone scan, and radiography of any long or weight-bearing bones that are painful or appear abnormal on bone scan; diagnostic CT of the abdomen (with or without diagnostic CT of the pelvis) or MRI of the abdomen; and biopsy documentation of first recurrence whenever possible. The use of sodium fluoride PET or PET/CT for evaluating patients with recurrent disease is generally discouraged.
Presently, metastatic breast cancer remains incurable. However, in recent years, the treatment landscape for metastatic breast cancer has significantly advanced in all breast cancer subtypes, leading to improvements in progression-free survival and even overall survival in some cases. For example, newer, targeted approaches directly address mutation drivers and allow precise delivery of chemotherapeutic agents. Detailed guidance on the treatment of breast cancer can be found here and in the full NCCN guidelines.
Avan J. Armaghani, MD, Assistant Member, Department of Breast Oncology, Moffitt Cancer Center, University of South Florida, Tampa, FL.
Avan J. Armaghani, MD, has disclosed no relevant financial relationships.
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