Original articles

Vol. 117: Issue 6 - December 2025

PIK3CA testing in HR+/HER2− metastatic breast cancer: assessing pathology laboratories capacity and needs

Authors

Eltjona Mane , Giulia Cursano , Konstantinos Venetis , Chiara Frascarelli , Francesco Pepe , Mariantonia Nacchio , Lucia Palumbo , Pasquale Pisapia , Elisa De Camilli , Isabella Castellano , Bruna Cerbelli , Leopoldo Costarelli , Giulia d'Amati , Antonio Rizzo , Alfredo Santinelli , Cristian Scatena , Carmen Criscitiello , Carmine De Angelis , Maria Vittoria Dieci , Giancarlo Troncone , Giuseppe Curigliano , Giuseppe Viale , Elena Guerini-Rocco , Umberto Malapelle , Nicola Fusco

Key words: PIK3CA testing, molecular diagnostics, HR /HER2− metastatic breast cancer, next-generation sequencing (NGS), precision oncology
DOI: 10.32074/1591-951X-1603
Publication Date: 2026-02-06

Abstract

The management of hormone receptor-positive/HER2-negative (HR+/HER2−) metastatic breast cancer (MBC) relies on molecular testing to inform treatment decisions. PIK3CA mutations, present in ~40% of cases, represent a key predictive biomarker for PI3K-pathway–targeted therapies. Despite its clinical relevance, PIK3CA testing continues to face challenges related to laboratory organization, standardization, and access. We conducted a nationwide, cross-sectional survey to evaluate current practices and institutional readiness for PIK3CA testing in Italy, in the context of the anticipated expansion of PI3K-targeted therapies, including inavolisib. A total of 118 healthcare professionals from institutions across 15 regions participated, providing data on test availability, laboratory workflows, analytical methodologies, accreditation status, and implementation barriers. Descriptive statistics were used for analysis. Overall, 88.1% of institutions reported the ability to perform PIK3CA testing, with 57.6% offering on-site analysis. Testing was predominantly performed in pathology laboratories (76.5%), followed by molecular biology (16.2%) and genetics laboratories (7.4%). However, 46.6% of institutions lacked formal molecular accreditation, and ISO:15189 certification remained uncommon. Pre-analytical workflows relied mainly on formalin-fixed paraffin-embedded (FFPE) tissue samples (89.7%), with limited routine use of liquid biopsy. Next-generation sequencing (NGS) was the most frequently adopted analytical approach (45.6%), followed by combined NGS and PCR-based strategies (36.8%). Most institutions reported turnaround times of 7–15 days. In conclusion, this updated survey indicates progress in access to PIK3CA testing and consolidation of NGS-based methodologies in Italy. Nevertheless, persistent gaps in accreditation, heterogeneous workflows, and limited integration of liquid biopsy highlight ongoing challenges in standardization and diagnostic equity. Coordinated national strategies will be essential to ensure consistent, high-quality molecular diagnostics in HR+/HER2− MBC.

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Authors

Eltjona Mane - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Giulia Cursano - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Konstantinos Venetis - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Chiara Frascarelli - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Francesco Pepe - Department of Public Health, Federico II University of Naples, Naples, Italy

Mariantonia Nacchio - Department of Public Health, Federico II University of Naples, Naples, Italy

Lucia Palumbo - Department of Public Health, Federico II University of Naples, Naples, Italy

Pasquale Pisapia - Department of Public Health, Federico II University of Naples, Naples, Italy

Elisa De Camilli - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Isabella Castellano - Unit of Pathology, Department of Medical Sciences, City of Health and Science University Hospital, University of Turin, Turin, Italy

Bruna Cerbelli - Department of Medical-Surgical Sciences and Biotechnologies Sapienza University of Rome, Rome, Italy

Leopoldo Costarelli - Unit of Pathology, San Giovanni-Addolorata Hospital, Rome, Italy

Giulia d'Amati - Department of Medical-Surgical Sciences and Biotechnologies Sapienza University of Rome, Rome, Italy

Antonio Rizzo - Division of Pathology, Clinical Institute Humanitas Catania, Misterbianco (CT), Italy

Alfredo Santinelli - Unit of Anatomic Pathology, Azienda Sanitaria Territoriale di Pesaro-Urbino, Pesaro, Italy

Cristian Scatena - Division of Pathology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy

Carmen Criscitiello - Division of New Drugs and Early Drug Development for Innovative Therapies, European Institute of Oncology IRCCS, Milan, Italy

Carmine De Angelis - Clinical and Translational Oncology, Scuola Superiore Meridionale, Naples, Italy

Maria Vittoria Dieci - Department of Surgery, Oncology and Gastroenterology, University of Padova, Padova, Italy

Giancarlo Troncone - Department of Public Health, Federico II University of Naples, Naples, Italy

Giuseppe Curigliano - Division of New Drugs and Early Drug Development for Innovative Therapies, European Institute of Oncology IRCCS, Milan, Italy

Giuseppe Viale - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Elena Guerini-Rocco - Division of Pathology, European Institute of Oncology IRCCS, Milan, Italy

Umberto Malapelle - Department of Public Health, Federico II University of Naples, Naples, Italy

Nicola Fusco - European Institute of Oncology

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Copyright

Copyright (c) 2026 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Mane, E., Cursano, G., Venetis, K., Frascarelli, C., Pepe, F., Nacchio, M., Palumbo, L., Pisapia, P., De Camilli, E., Castellano, I., Cerbelli, B., Costarelli, L., d’Amati, G., Rizzo, A., Santinelli, A., Scatena, C., Criscitiello, C., De Angelis, C., Dieci, M. V., Troncone, G., Curigliano, G., Viale, G., Guerini-Rocco, E., Malapelle, U., & Fusco, N. (2026). PIK3CA testing in HR+/HER2− metastatic breast cancer: assessing pathology laboratories capacity and needs. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 117(6). https://doi.org/10.32074/1591-951X-1603
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