A review on genetic alterations in CNS metastases related to breast cancer treatment. Is there a role for liquid biopsies in CSF?

J Neurooncol. 2023 Mar;162(1):1-13. doi: 10.1007/s11060-023-04261-2. Epub 2023 Feb 23.

Abstract

Acquired mutations or altered gene expression patterns in brain metastases (BM) and/or leptomeningeal metastases (LM) of breast cancer may play a role in therapy-resistance and offer new molecular targets and treatment options. Despite expanding knowledge of genetic alterations in breast cancer and their metastases, clinical applications for patients with central nervous system (CNS) metastases are currently limited. An emerging tool are DNA-techniques that may detect genetic alterations of the CNS metastases in the cerebrospinal fluid (CSF). In this review we discuss genetic studies in breast cancer and CNS metastases and the role of liquid biopsies in CSF.

Keywords: Brain metastases; Breast cancer; Concordance; Genetic alterations; Leptomeningeal metastases; Liquid biopsy.

Publication types

  • Review

MeSH terms

  • Brain Neoplasms* / cerebrospinal fluid
  • Brain Neoplasms* / genetics
  • Brain Neoplasms* / therapy
  • Breast Neoplasms* / pathology
  • Central Nervous System Neoplasms* / cerebrospinal fluid
  • Central Nervous System Neoplasms* / genetics
  • Central Nervous System Neoplasms* / therapy
  • Female
  • Humans
  • Liquid Biopsy / methods
  • Mutation