Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- dor óssea
- derrame pleural
- massa palpável após tratamento do tumor primário
Other diagnostic factors
- dispneia
- tosse (não produtiva)
- anorexia
- perda de peso
- sintomas neurológicos (por exemplo, dor nevrálgica, fraqueza, cefaleias, convulsões)
Risk factors
- sexo feminino
- idade >50 anos
- história familiar de câncer de mama, ovário, pâncreas e/ou próstata
- genes de suscetibilidade ao câncer de mama (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11 e TP53)
- tumor >5 cm de diâmetro
- alto número de linfonodos axilares positivos (por exemplo, >10)
- invasão linfovascular
- assinatura de 70 genes de alto risco
- assinatura de 21 genes de alto risco
- assinatura de gene PAM50 de alto risco
- Síndrome de Lynch (câncer colorretal hereditário sem polipose)
- mutações CHEK2
- mutações ATM
- doença residual mínima (DRM)
- assinaturas de genes de metástase óssea e metástase no pulmão
Diagnostic investigations
1st investigations to order
- Hemograma completo
- TFHs
- cálcio
- tomografia computadorizada (TC) do tórax e abdome
- cintilografia óssea
Investigations to consider
- RNM (com foco na área preocupante; por exemplo, cérebro, medula espinhal, osso)
- FDG-PET/CT
- biópsia da lesão metastática
- teste de linha germinativa para genes de suscetibilidade ao câncer de mama com alta penetrância
- testes adicionais de biomarcadores
- ecocardiograma
- angiografia sincronizada multinuclear (MUGA)
- citologia pleural
Treatment algorithm
positivo para receptores hormonais, negativo para HER2, sem crise visceral: menopausada
positivo para receptores hormonais, negativo para HER2, sem crise visceral: pré-menopausa
positivo para receptores hormonais, positivo para HER2, sem crise visceral: menopausada
positivo para receptores hormonais, positivo para HER2, sem crise visceral: pré-menopausa
negativo para receptores hormonais, positivo para HER2, sem crise visceral
PD-L1 negativo, triplo negativo (receptor de hormônio negativo, HER2 negativo), sem crise visceral
PD-L1 positiva, triplo negativo (receptor de hormônio negativo, HER2 negativo), sem crise visceral
positivo ou negativo para receptor hormonal, negativo para HER2, com crise visceral
positivo ou negativo para receptor hormonal, positivo para HER2, com crise visceral
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
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.
Differentials
- Câncer pulmonar
- Osteossarcoma
- Sarcoma de mama
More DifferentialsGuidelines
- Advanced breast cancer: diagnosis and treatment
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast, ovarian, pancreatic, and prostate
More GuidelinesPatient information
Câncer de mama localmente avançado: o que é?
Câncer de mama: CDIS (câncer de mama em estágio muito inicial) em mulheres
More Patient information
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