: Introduction: PIK3CA gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR+/HER2-) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CA status is complex due to selection of biological specimen and testing method. Materials & methods: This work investigates real-life experience on PIK3CA testing in HR+/HER2- MBC. Clinical, technical and molecular data on PIK3CA testing were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CA survey involving 116 institutions were assessed. Results: Overall, n = 35 MBCs were PIK3CA-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for PIK3CA molecular testing in diagnostic routine practice. Conclusion: This study provides insights into the real-world routine of PIK3CA testing in HR+/HER2- MBC and highlights the need for standardization and networking in predictive pathology.

PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories / Pepe, Francesco; Venetis, Konstantinos; Cursano, Giulia; Frascarelli, Chiara; Pisapia, Pasquale; Vacirca, Davide; Scimone, Claudia; Rappa, Alessandra; Russo, Gianluca; Mane, Eltjona; Pagni, Fabio; Castellano, Isabella; Troncone, Giancarlo; Angelis, Carmine De; Curigliano, Giuseppe; Guerini-Rocco, Elena; Malapelle, Umberto; Fusco, Nicola. - In: PHARMACOGENOMICS. - ISSN 1462-2416. - (2024). [10.2217/pgs-2023-0238]

PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories

Pepe, Francesco;Pisapia, Pasquale;Scimone, Claudia;Russo, Gianluca;Troncone, Giancarlo;Angelis, Carmine De;Malapelle, Umberto;
2024

Abstract

: Introduction: PIK3CA gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR+/HER2-) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CA status is complex due to selection of biological specimen and testing method. Materials & methods: This work investigates real-life experience on PIK3CA testing in HR+/HER2- MBC. Clinical, technical and molecular data on PIK3CA testing were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CA survey involving 116 institutions were assessed. Results: Overall, n = 35 MBCs were PIK3CA-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for PIK3CA molecular testing in diagnostic routine practice. Conclusion: This study provides insights into the real-world routine of PIK3CA testing in HR+/HER2- MBC and highlights the need for standardization and networking in predictive pathology.
2024
PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories / Pepe, Francesco; Venetis, Konstantinos; Cursano, Giulia; Frascarelli, Chiara; Pisapia, Pasquale; Vacirca, Davide; Scimone, Claudia; Rappa, Alessandra; Russo, Gianluca; Mane, Eltjona; Pagni, Fabio; Castellano, Isabella; Troncone, Giancarlo; Angelis, Carmine De; Curigliano, Giuseppe; Guerini-Rocco, Elena; Malapelle, Umberto; Fusco, Nicola. - In: PHARMACOGENOMICS. - ISSN 1462-2416. - (2024). [10.2217/pgs-2023-0238]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/954354
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