Τίτλος:
Detection of ESR1 Mutations in Primary Tumors and Plasma Cell-Free DNA in High-Grade Serous Ovarian Carcinoma Patients
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
ESR1 mutations have been recently associated with resistance to endocrine therapy in metastatic breast cancer and their detection has led to the development and current evaluation of novel, highly promising therapeutic strategies. In ovarian cancer there have been just a few reports on the presence of ESR1 mutations. The aim of our study was to evaluate the frequency and the clinical relevance of ESR1 mutations in high-grade serous ovarian cancer (HGSOC). Drop-off droplet digital PCR (ddPCR) was first used to screen for ESR1 mutations in 60 primary tumors (FFPEs) from HGSOC patients and in 80 plasma cell-free DNA (cfDNA) samples from advanced and metastatic ovarian cancer patients. We further used our recently developed ESR1-NAPA assay to identify individual ESR1 mutations in drop-off ddPCR-positive samples. We report for the first time the presence of ESR1 mutations in 15% of FFPEs and in 13.8% of plasma cfDNA samples from advanced and metastatic ovarian cancer patients. To define the clinical significance of this finding, our results should be further validated in a large and well-defined cohort of ovarian cancer patients. © 2022 by the authors.
Συγγραφείς:
Stergiopoulou, D.
Markou, A.
Giannopoulou, L.
Buderath, P.
Balgkouranidou, I.
Xenidis, N.
Kakolyris, S.
Kasimir-Bauer, S.
Lianidou, E.
Λέξεις-κλειδιά:
bevacizumab; capecitabine plus oxaliplatin; carboplatin; DNA; docetaxel; paclitaxel; plasma cell free dna; unclassified drug, adult; advanced cancer; Article; cancer grading; controlled study; DNA extraction; droplet digital polymerase chain reaction; female; gene frequency; gene mutation; genetic analysis; human; human tissue; middle aged; multiple cycle treatment; ovary carcinoma; ovary metastasis; overall survival; progression free survival; serous ovarian carcinoma; serous ovarian carcinoma
DOI:
10.3390/cancers14153790
