Detection of ESR1 Mutations in Single Circulating Tumor Cells upon Estrogen Deprivation Therapy but not in Primary Tumors from Metastatic Luminal Breast Cancer Patients

Mutations in the ligand-binding domain (LBD) of the ESR1 gene result in resistance to estrogen deprivation therapy (EDT) in breast cancer. Their detection might enable optimization of therapy strategies. However, the predictive utility of the primary tumor (PT) is limited and obtaining serial biopsies of metastatic lesions is challenging. To underline their application as a liquid biopsy, single circulating tumor cells (CTCs) were analyzed with a next generation sequencing approach for the ESR1 coding region.

Source: Journal of Molecular Diagnostics - October 23, 2019 Category: Pathology Authors: Andr é Franken, Ellen Honisch, Florian Reinhardt, Franziska Meier-Stiegen, Liwen Yang, Sandra Jaschinski, Irene Esposito, Barbara Alberter, Bernhard Polzer, Hanna Huebner, Peter A. Fasching, Sunil Pancholi, Lesley-Ann Martin, Eugen Ruckhaeberle, Fabienne Tags: Regular article Source Type: research