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激素受体阳性、人表皮生长因子受体2阴性转移性乳腺癌患者的ESR1基因突变：肿瘤组织与循环肿瘤DNA分析的一致性

ESR1 Gene Mutation in Hormone Receptor-Positive HER2-Negative Metastatic Breast Cancer Patients: Concordance Between Tumor Tissue and Circulating Tumor DNA Analysis.

作者信息

Urso Loredana, Vernaci Grazia, Carlet Jessica, Lo Mele Marcello, Fassan Matteo, Zulato Elisabetta, Faggioni Giovanni, Menichetti Alice, Di Liso Elisabetta, Griguolo Gaia, Falci Cristina, Conte Pierfranco, Indraccolo Stefano, Guarneri Valentina, Dieci Maria Vittoria

机构信息

Department of Surgery, Oncology and Gastroenterology-DiSCOG, University of Padova, Padova, Italy.

Medical Oncology 2, Istituto Oncologico Veneto IOV-IRCCS, Padova, Italy.

出版信息

Front Oncol. 2021 Mar 11;11:625636. doi: 10.3389/fonc.2021.625636. eCollection 2021.

DOI:10.3389/fonc.2021.625636
PMID:33777770
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7991720/
Abstract

Endocrine therapy represents the cornerstone of treatment in hormone receptor-positive (HR+), HER2-negative metastatic breast cancer (mBC). The natural course of this disease is marked by endocrine resistance, mainly due to Estrogen Receptor 1 (ESR1) acquired mutations. The aim of this study is to evaluate the concordance between ESR1 status in metastatic tumor specimens and matched circulating tumor DNA (ctDNA). Forty-three patients with HR+, HER2-negative mBC underwent both a metastatic tumor biopsy and a liquid biopsy at the time of disease progression. DNA extracted from formalin fixed paraffin embedded (FFPE) tumor specimens and ctDNA from matched plasma were analyzed by droplet digital (dd)PCR for the main ESR1 mutations (Y537S, Y537C, Y537N, D538G, E380Q). We observed a total mutation rate of 21%. We found six mutations on tissue biopsy: Y537S (1), D538G (2), Y537N (1), E380Q (2). Three patients with no mutations in tumor tissue had mutations detected in ctDNA. The total concordance rate between ESR1 status on tumor tissue and plasma was 91%. Our results confirm the potential role of liquid biopsy as a non-invasive alternative to tissue biopsy for ESR1 mutation assessment in mBC patients.

摘要

内分泌治疗是激素受体阳性（HR+）、人表皮生长因子受体2阴性（HER2-）转移性乳腺癌（mBC）治疗的基石。这种疾病的自然病程以内分泌抵抗为特征，主要是由于雌激素受体1（ESR1）获得性突变。本研究的目的是评估转移性肿瘤标本中的ESR1状态与匹配的循环肿瘤DNA（ctDNA）之间的一致性。43例HR+、HER2-的mBC患者在疾病进展时同时接受了转移性肿瘤活检和液体活检。从福尔马林固定石蜡包埋（FFPE）肿瘤标本中提取的DNA和匹配血浆中的ctDNA通过液滴数字（dd）PCR分析主要的ESR1突变（Y537S、Y537C、Y537N、D538G、E380Q）。我们观察到总突变率为21%。我们在组织活检中发现了6个突变：Y537S（1个）、D538G（2个）、Y537N（1个）、E380Q（2个）。3例肿瘤组织无突变的患者在ctDNA中检测到突变。肿瘤组织和血浆中ESR1状态的总一致性率为91%。我们的结果证实了液体活检作为mBC患者ESR1突变评估的非侵入性替代组织活检的潜在作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/add74265eac0/fonc-11-625636-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/824f2eb8e210/fonc-11-625636-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/910fc538b990/fonc-11-625636-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/add74265eac0/fonc-11-625636-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/824f2eb8e210/fonc-11-625636-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/910fc538b990/fonc-11-625636-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/7991720/add74265eac0/fonc-11-625636-g003.jpg

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