Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- bone pain
- pleural effusion
- palpable mass after treatment of the primary tumour
Other diagnostic factors
- shortness of breath
- cough (non-productive)
- anorexia
- weight loss
- neurological symptoms (e.g., neuralgic pain, weakness, headaches, seizures)
Risk factors
- female sex
- age >50 years
- family history of breast, ovarian, pancreatic, and/or prostate cancer
- breast cancer susceptibility genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, and TP53)
- tumour >5 cm in diameter
- high number of positive axillary lymph nodes (e.g., >10)
- lymphovascular invasion
- high-risk 70-gene signature
- high-risk 21-gene signature
- high-risk PAM50 gene signature
- Lynch syndrome (hereditary non-polyposis colorectal cancer)
- CHEK2 mutations
- ATM mutations
- minimal residual disease (MRD)
- bone metastasis and lung metastasis gene signatures
Diagnostic investigations
1st investigations to order
- FBC
- LFTs
- calcium
- CT (of chest and abdomen)
- bone scan (scintigraphy)
Investigations to consider
- MRI (focused on area of concern, e.g., brain, spinal cord, bone)
- FDG-PET/CT scan
- biopsy of metastatic lesion
- germline testing for high-penetrance breast cancer susceptibility genes
- additional biomarker testing
- echocardiogram
- multi-gated acquisition (MUGA) scan
- pleural cytology
Treatment algorithm
hormone receptor-positive, HER2-negative, without visceral crisis: post-menopausal
hormone receptor-positive, HER2-negative, without visceral crisis: pre-menopausal
hormone receptor-positive, HER2-positive, without visceral crisis: post-menopausal
hormone receptor-positive, HER2-positive, without visceral crisis: pre-menopausal
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
Contributors
Authors
Edward Sauter, MD, PhD
Medical and Program Officer
Division of Cancer Prevention
National Cancer Institute
Rockville
MD
Disclosures
ES declares that he has no competing interests.
Wajeeha Razaq, MD
Breast Cancer Site Chair
University Oklahoma School of Medicine
Oklahoma City
OK
Disclosures
WS declares that she has no competing interests.
Acknowledgements
Dr Edward Sauter and Dr Wajeeha Razaq would like to gratefully acknowledge Dr Puja Nistala, Dr Donald Doll, Dr Carl E. Freter and Dr Michael Perry, previous contributors to this topic.
Disclosures
PN, DD, CEF and MP declare that they have no competing interests.
Peer reviewers
Alan Neville, MD
Professor
Assistant Dean
Undergraduate Program
McMaster University
Hamilton
Ontario
Canada
Disclosures
AN declares that he has no competing interests.
Gianfilippo Bertelli, MD, PhD, FRCP (Edin)
Consultant
Honorary Senior Lecturer in Medical Oncology
South West Wales Cancer Centre
Swansea
UK
Disclosures
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
Assistant Professor
Division of Hematology/Oncology
Department of Medicine
University of Alabama at Birmingham
Birmingham
AL
Disclosures
CV declares that University of Alabama at Birmingham has received research support from Pfizer, F. Hoffmann-La Roche, and Incyte.
References
Key articles
Gennari A, André F, Barrios CH, et al. ESMO clinical practice guideline for the diagnosis, staging and treatment of patients with metastatic breast cancer. Ann Oncol. 2021 Dec;32(12):1475-95.Full text Abstract
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer [internet publication].Full text
Rugo HS, Rumble B, Macrae E, et al. Endocrine therapy for hormone receptor-positive metastatic breast cancer: American Society of Clinical Oncology Guideline. J Clin Oncol. 2016 Sep 1;34(25):3069-103.Full text Abstract
Giordano SH, Franzoi MAB, Temin S, et al. Systemic therapy for advanced human epidermal growth factor receptor 2-positive breast cancer: ASCO guideline update. J Clin Oncol. 2022 Aug 10;40(23):2612-35.Full text Abstract
Van Poznak C, Somerfield MR, Barlow WE, et al. Role of bone-modifying agents in metastatic breast cancer: an American Society of Clinical Oncology-Cancer Care Ontario focused guideline update. J Clin Oncol. 2017 Dec 10;35(35):3978-86.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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