Epidemiology of De Novo Metastatic Breast Cancer

Most cases of metastatic breast cancer (MBC) arise as a recurrence of a previously treated early breast cancer. Distinct from recurrent MBC is de novo MBC (dnMBC), which describes patients who present with distant sites of disease at initial diagnosis and is reviewed here. dnMBC represents approximately 3% to 6% of new breast cancer diagnoses in high-income countries. This incidence has not declined despite decades of widespread use of population-based mammography screening. Overrepresentation of both biologically aggressive tumors and patients negatively impacted by social determinants of health are characteristics of dnMBC. Survival has generally been superior for patients with dnMBC compared with those with recurrent MBC, although it is similar to that for patients with recurrent MBC with long disease-free intervals. Subgroups of patients with dnMBC who experience prolonged survival include those with human epidermal growth factor receptor-2-positive disease or hormone receptor-positive bone-only disease. Opportunities to decrease dnMBC presentation may include novel screening modalities suited for biologically aggressive breast tumors and improved access to health care. Recognizing that there will remain some women diagnosed with dnMBC, refining our ability to identify those likely to be long-term survivors could allow for appropriate escalation or de-escalation of care. Finally, evaluation of tumor genomics in robust sample sizes has the potential to advance our knowledge of the biology of dnMBC as an entity distinct from recurrent MBC.