ESR1 Mutation Detection and Dynamics in Meningeal Carcinomatosis in Breast Cancer.

Abstract:

:ESR1 mutation is frequently encountered in hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (MBC), especially after aromatase inhibitor (AI) therapy, as a mechanism of resistance to endocrine therapy. Circulating tumor DNA-based detection of ESR1 mutation in plasma has been demonstrated as a prognostic and predictive factor for poor outcomes in subsequent AI therapy. In this case report, for the first time, we describe the detection of ESR1 mutation (p.Tyr537Ser) only in the cerebrospinal fluid (CSF) and not in the plasma of a patient with isolated leptomeningeal progression who was treated with AI for HR-positive, HER2-negative MBC (bone metastasis only). Circulating tumor DNA levels also appeared to be correlated with clinical evolution. We suggest that in the presence of isolated leptomeningeal metastasis and when tamoxifen or AI has been prescribed for HR-positive MBC, CSF should be screened for ESR1 mutations to potentially adjust systemic treatment.

journal_name

J Breast Cancer

journal_title

Journal of breast cancer

authors

Carausu M,Melaabi S,Pierga JY,Bidard FC,Cabel L

doi

10.4048/jbc.2020.23.e4

subject

Has Abstract

pub_date

2019-12-19 00:00:00

pages

218-223

issue

2

eissn

1738-6756

issn

2092-9900

journal_volume

23

pub_type

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