Nicola Fusco: How Reliable Is ESR1 Mutation Testing in Liquid Biopsy for ER+/HER2- mBC?
Nicola Fusco, Director of the Biobank for Translational and Digital Medicine Unit, the Laboratory of Pathological Anatomy (Histology and NGS Molecular Diagnostics), and Division of Pathology at the European Institute of Oncology (IEO), shared a post on LinkedIn about a paper he co-authored with colleagues published in The Journal of Liquid Biopsy:
“How reliable is ESR1 mutation testing in liquid biopsy for ER+/HER2− metastatic breast cancer?
And are we, as a pathology community, ready to adopt shared standards for its implementation in clinical practice?
These are the questions that we wanted to answer through this multi-institutional harmonization trial just published in the Journal of Liquid Biopsy, Elsevier.
In this study, 10 Italian reference centers tested the same artificial samples harboring the ESR1 p.D538G mutation at clinically relevant VAFs (5%, 1%, 0.5%) using their own routine platforms (NGS or dPCR).
The results are encouraging:
- High inter-laboratory concordance
- No significant differences between NGS and dPCR
Our study provides a key message: the real innovation is in high-quality diagnostic protocols, validated reference materials, and widely adoptable recommendations.
Proud to have contributed to this initiative with my mate Umberto Malapelle and the outstanding Francesco Pepe and Konstantinos Venetis, PhD.
Thank you to SIAPeC-IAP, its Italian Group of Molecular Pathology and Precision Medicine (Task Force on Liquid Biopsy), and all the contributing authors, including our President, Angelo Paolo Dei Tos, Gianluca Russo, Matteo Fassan, Giuseppe Perrone, Claudia Scimone, Lucia Palumbo, Mariantonia Nacchi,o Dario de Biase, Fabio Pagni, Antonio Rizzo, Giancarlo Troncone.”
Svetlana Nikic, Founder of Precision Oncology Consulting, shared this post, adding:
“I’m a strong believer of this type of concordance studies – great to see that ESR1 mutation detection in metastatic breast cancer using liquid biopsy (LBx) is tech-agnostic. Congratulations, Nicola Fusco and many others involved.”
Title: Harmonization trial on ESR1 testing strategies in ER+/HER2- breast cancer patients: an Italian experience
Authors: Francesco Pepe, Gianluca Russo, Konstantinos Venetis, Claudia Scimone, Lucia Palumbo, Mariantonio Nacchio, Domenica di Giovanni, Claudia Sarracino, Ilaria Tomaiuolo, Elisabetta Zulato, Matteo Fassan, Daniela Righi, Giuseppe Perrone, Dario de Biase, Gabriele Casati, Fabio Pagni, Lucia Gullotti, Antonio Rizzo, Alessandro Perez, Antonio Russo, Katia Zavaglia, Gianluca Gragnano, Domenico Cozzolino, Sabrina Alfano, Cristian Scatena, Sara D’andrea, Monica Schiappacassi, Giuseppina Roscigno, Alessia Paganotti, Renzo Boldorini, Francesco Esposito, Pierlorenzo Pallante, Daniela Furlan, Marta Sbaraglia, Angelo Paolo Dei Tos, Giancarlo Troncone, Nicola Fusco, Umberto Malapelle
You can read the Full Article on The Journal of Liquid Biopsy.
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