Metastatic breast cancer

Last reviewed: 27 Oct 2022
Last updated: 22 Jun 2022

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • bone pain
  • pleural effusion
  • palpable mass after treatment of the primary tumour
More key diagnostic factors

Other diagnostic factors

  • shortness of breath
  • anorexia
  • weight loss
  • neurological pain or weakness, headaches, seizures
Other diagnostic factors

Risk factors

  • 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
  • tumour >5 cm in diameter
  • high number of positive nodes (e.g., >10)
  • lymphovascular invasion
  • unfavourable 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
More risk factors

Diagnostic investigations

1st investigations to order

  • FBC
  • LFTs
  • calcium
  • chest x-ray
  • CT (of chest and abdomen)
  • bone scan
More 1st investigations to order

Investigations to consider

  • MRI (focused on area of concern; e.g., bone, brain)
  • PET scan
  • biopsy of metastatic lesion
  • genetic testing
  • multi-gated acquisition (MUGA) scan
  • pleural cytology
  • carcinoembryonic antigen
  • cancer antigen 15-3
  • cancer antigen 27-29
More investigations to consider

Treatment algorithm

ONGOING

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
Edward Sauter

Medical and Program Officer

Division of Cancer Prevention

National Cancer Institute

Rockville

MD

Disclosures

ES declares that he has no competing interests.

Puja Nistala, MD

Ellis Fischel Cancer Center

Margaret Proctor Mulligan Associate Professor of Clinical Medicine

Medical Oncology - Breast Program Director

University of Missouri

Columbia

MO

Disclosures

PN declares that she has no competing interests.

Donald Doll, MD

Professor

Clinical Medicine

University of Missouri

Columbia

MO

Disclosures

DD declares that he has no competing interests.

Acknowledgements

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.

Disclosures

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.

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