ESR1 Mutation Detection and Dynamics in Meningeal Carcinomatosis in Breast Cancer

被引：5

作者：

Carausu, Marcela ^{[1
]}

Melaabi, Samia ^{[2
]}

Pierga, Jean-Yves ^{[1
,3
,4
]}

Bidard, Francois-Clement ^{[1
,5
]}

Cabel, Luc ^{[1
,5
]}

机构：

[1] PSL Res Univ, Inst Curie, Dept Med Oncol, St Cloud, France

[2] PSL Res Univ, Inst Curie, Dept Genet, Paris, France

[3] Paris Descartes Univ, Paris, France

[4] PSL Res Univ, Inst Curie, Dept Med Oncol, Paris, France

[5] Paris Saclay Univ, St Quentin En Yvelines Univ, Paris, France

来源：

JOURNAL OF BREAST CANCER | 2020年 / 23卷 / 02期

关键词：

Breast neoplasms; Cerebrospinal fluid; Estrogen receptor alpha; Liquid biopsy; Meningeal carcinomatosis;

D O I：

10.4048/jbc.2020.23.e4

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：218 / 223

页数：6

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