Abstract

Globally, Breast Cancer (BC) is the leading cause of cancer death among women. About 75% of patients are diagnosed with hormone-dependent tumors and are set to receive Endocrine Therapy (ET) targeting the estrogen receptor. Unfortunately, a significant proportion of these patients develops ET resistance. Still controversial, studies have proposed that Estrogen Receptor-Alpha Gene (ESR1) alterations may underlie ET resistance. Here, we describe the use of a Chromogenic in Situ Hybridization (CISH) assay for the assessment of ESR1 amplification in primary tumors and recurrences. This assay could be a useful clinical tool with therapeutic implications for estrogen receptor positive BC patients.

Highlights

  • Worldwide, Breast Cancer (BC) remains as the leading cause of cancer-related death for women [1]

  • 85% of patient samples were classified as ductal carcinoma, and a 64.28% were treated with tamoxifen prior to Endocrine Therapy (ET) resistance

  • In 3 out of 7 cases (42.9%) we observed discrepancies in ESR1-amplification status between the primary tumor and the recurrence; Within this subset, 2 went from ESR1-amplificationto +, and 1 recurrence lost the ESR1amplification observed in the primary tumor

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Summary

Introduction

Breast Cancer (BC) remains as the leading cause of cancer-related death for women [1]. A 75% of breast tumors stain positive for the Estrogen Receptor (ER+). Positivity for ER in tumors is a predictor for ET responsiveness [2,3]. ET resistance is manifested as recurrent disease during or after adjuvant treatment [3]. For these patients, metastasis is the main cause of death [7]. Studies have postulated a variety of ET resistance mechanisms, one of the best described to date is ER-alpha gene (ESR1) amplification [8]. ESR1 amplification has been described in both primary tumors and metastases [9,10,11]. The assessment of gene amplification is a standard procedure routinely performed in pathology laboratories

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