There is great heterogeneity in both the presentation and prognosis of metastatic breast cancer (MBC).
Multigene expression panels are being evaluated to determine which women with early stage breast cancer are more likely to develop metastatic disease.
Decisions on whether or not to treat a patient with MBC and the aggressiveness of treatment must be individualized, based on patient prognosis, tumor characteristics, performance status, and the primary goals of treatment.
Unlike stage I to III breast cancer, the primary goal of treatment in MBC (stage IV) is often to improve quality of life, with extending life a secondary goal.
Breast cancer is considered metastatic breast cancer (MBC) if the disease has spread beyond the breast and ipsilateral lymph nodes (axillary, internal mammary, infra- and supraclavicular).
History and exam
Key diagnostic factors
- bone pain
- pleural effusion
- palpable mass after treatment of the primary tumor
Other diagnostic factors
- shortness of breath
- weight loss
- neurologic pain or weakness, headaches, seizures
- female sex
- age >50 years
- family history of breast and/or ovarian cancer
- breast cancer type 1, early onset (BRCA1) or breast cancer type 2 susceptibility protein (BRCA2) mutation present in either parent
- PALB2 germline mutations
- CDH1 germline mutations
- tumor >5 cm in diameter
- high number of positive nodes (e.g., >10)
- lymphovascular invasion
- unfavorable 70-gene signature
- high-risk 21-gene signature
- minimal residual disease (MRD)
- bone metastasis and lung metastasis gene signatures
- Lynch family syndrome
- CHEK2 mutations
- ATM mutations
1st investigations to order
- chest x-ray
- CT (of chest and abdomen)
- bone scan
Investigations to consider
- MRI (focused on area of concern, e.g., bone, brain)
- PET scan
- biopsy of metastatic lesion
- multi-gated acquisition (MUGA) scan
- pleural cytology
- carcinoembryonic antigen
- cancer antigen 15-3
- cancer antigen 27-29
hormone receptor-positive, HER2-negative, without visceral crisis: postmenopausal
hormone receptor-positive, HER2-negative, without visceral crisis: premenopausal
hormone receptor-positive, HER2-positive, without visceral crisis: postmenopausal
hormone receptor-positive, HER2-positive, without visceral crisis: premenopausal
hormone receptor-negative, HER2-positive, without visceral crisis
PD-L1-negative, triple negative (hormone receptor-negative, HER2-negative), without visceral crisis
PD-L1-positive, triple negative (hormone receptor-negative, HER2-negative), without visceral crisis
hormone receptor-positive or negative, HER2-negative, with visceral crisis
hormone receptor-positive or negative, HER2-positive, with visceral crisis
Edward Sauter, MD, PhD
Breast Surgery Program
Visiting Professor of Surgery
University of Connecticut School of Medicine
ES declares that he has no competing interests.
Puja Nistala, MD
Hematology and Oncology
Ellis Fischel Cancer Center
Margaret Proctor Mulligan Assistant Professor of Clinical Medicine
Medical Oncology - Breast Program Director
University of Missouri
PN declares that she has no competing interests.
Donald Doll, MD
University of Missouri
Dr Edward Sauter, Dr Puja Nistala, and Dr Donald Doll would like to gratefully acknowledge Dr Carl E. Freter and Dr Michael Perry, previous contributors to this topic.
CEF and MP declare that they have no competing interests.
Alan Neville, MD
AN declares that he has no competing interests.
Gianfilippo Bertelli, MD, PhD, FRCP (Edin)
Honorary Senior Lecturer in Medical Oncology
South West Wales Cancer Centre
GB has received honoraria for participation in advisory boards (AstraZeneca, Novartis, Pfizer, Roche, GSK, Cephalon, Amgen, Sanofi, Aventis), speaker's fees (AstraZeneca, Novartis, Sanofi, Aventis), and hospitality at conferences (AstraZeneca, Novartis, Pfizer, Roche, Aventis).
Christos Vaklavas, MD
Division of Hematology/Oncology
Department of Medicine
University of Alabama at Birmingham
CV declares that University of Alabama at Birmingham has received research support from Pfizer, F. Hoffmann-La Roche, and Incyte.
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