Receptor Discordance in Metastatic Breast Cancer; a review of clinical and genetic subtype alterations from primary to metastatic disease

Breast Cancer Res Treat. 2024 Oct;207(3):471-476. doi: 10.1007/s10549-024-07431-6. Epub 2024 Aug 1.

Abstract

Purpose: Receptor and subtype discordance between primary breast tumours and metastases is a frequently reported phenomenon. The aim of this article is to review the current evidence on receptor discordance in metastatic breast cancer and to explore the benefit of performing a repeat biopsy in this context.

Methods: Searches were undertaken on PubMed and Clinicaltrials.gov for relevant publications and trials.

Conclusion: The current guidelines recommend offering to perform a biopsy of a metastatic lesion to evaluate receptor status. The choice of systemic therapy in metastatic disease is often based on the receptor status of the primary lesion. As therapeutic decision making is guided by subtype, biopsy of the metastatic lesion to determine receptor status may alter treatment. This article discusses discordance rates, the mechanisms of receptor discordance, the effect of discordance on treatment and survival outcomes, as well as highlighting some ongoing clinical trials in patients with metastatic breast cancer.

Keywords: Breast cancer; Intrinsic molecular subtype; Metastases; Receptor discordance; Subtype switching.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Biopsy
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Female
  • Humans
  • Neoplasm Metastasis*
  • Prognosis
  • Receptor, ErbB-2 / genetics
  • Receptor, ErbB-2 / metabolism
  • Receptors, Estrogen / metabolism
  • Receptors, Progesterone / metabolism

Substances

  • Receptor, ErbB-2
  • Receptors, Estrogen
  • Biomarkers, Tumor
  • Receptors, Progesterone