| Autor: |
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 |
| Zdroj: |
Pharmacogenomics; March 2024, Vol. 25 Issue: 3 p161-169, 9p |
| Abstrakt: |
Introduction:PIK3CAgene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR+/HER2−) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CAstatus is complex due to selection of biological specimen and testing method. Materials & methods:This work investigates real-life experience on PIK3CAtesting in HR+/HER2−MBC. Clinical, technical and molecular data on PIK3CAtesting were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CAsurvey 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 PIK3CAmolecular testing in diagnostic routine practice. Conclusion:This study provides insights into the real-world routine of PIK3CAtesting in HR+/HER2−MBC and highlights the need for standardization and networking in predictive pathology. |
| Databáze: |
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