Original articles

Vol. 116: Issue 5 - October 2024

BRCA testing in metastatic castration-resistant prostate cancer: successes and troubles in a real world setting. An Italian Multicentric study

Authors

Stefania Tommasi , Claudio Alessandro Coppola , Alessandro Caniglia , Brunella Pilato , Francesco Alfredo Zito , Mariantonia Carosi , Elisa Melucci , Beatrice Casini , Andrea Russo , Viviana Gismondi , Gabriella Cirmena , Michele Paudice , Umberto Malapelle , Francesco Pepe , Giancarlo Troncone , Gabriella Fontanini , Rossella Bruno , Pinuccia Faviana , Davide Vacirca , Sergio Vincenzo Taormina , Simona Francesconi , Cecilia Caprera , Matteo Corsi , Sergio Bracarda , Massimo Barberis

DOI: 10.32074/1591-951X-1010
Publication Date: 2024-11-29

Abstract

Objective. Prostate cancer (PCa) is the most common cause of cancer-related deaths in men worldwide. BRCA1/2 genes are reported altered in approximately 1% and 8% of PCa cases, respectively. To date, formalin-fixed paraffin-embedded (FFPE) tissues have a consolidate use in the clinical practice, but with a significant drawback related to DNA/RNA degradation during the pre-analytical process. The purpose of this study is to evaluate the feasibility of detecting BRCA1/2 alterations in DNA extracted from FFPE tissues collected from PCa patients after various years of storage in seven Italian hospitals.

Methods. A total of 241 DNA samples were extracted from FFPE tissue with different storage times (1-12 y) and sequenced with NGS technology. BRCA1/2 evaluability was assessed performing data analysis with a chi-square test to study the impact of the storage time on the DNA degradation.

Results. The data collected showed a strict relation not only between the storage time and the BRCA1/2 evaluability, but even between the storage time and DNA degradation (DIN). Taken together, all the parameters considered decrease with an increase in the storage time.

Conclusions. Excessive FFPE tissues storage time (more than 3 years) can harshly affect DNA analysis and evaluability, hindering the achievement of a result useful in the clinical practice. Hence, it should be considered to perform the analysis as soon as possible to increase the evaluability of the test.

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Authors

Stefania Tommasi - Molecular Diagnostics and Pharmacogenetics Unit, IRCCS Istituto Tumori Giovanni Paolo II Bari

Claudio Alessandro Coppola - Molecular Diagnostics and Pharmacogenetics Unit, IRCCS Istituto Tumori Giovanni Paolo II Bari

Alessandro Caniglia - Anatomy Pathology, IRCCS Istituto Tumori Giovanni Paolo II Bari

Brunella Pilato - Molecular Diagnostics and Pharmacogenetics Unit, IRCCS Istituto Tumori Giovanni Paolo II Bari

Francesco Alfredo Zito - Anatomy Pathology, IRCCS Istituto Tumori Giovanni Paolo II Bari

Mariantonia Carosi - Pathologic Anatomy and Histology Cytodiagnostics and Advanced Molecular Diagnostics, IRCCS Istituto Nazionale Tumori Regina Elena Roma

Elisa Melucci - Pathologic Anatomy and Histology Cytodiagnostics and Advanced Molecular Diagnostics, IRCCS Istituto Nazionale Tumori Regina Elena Roma

Beatrice Casini - Pathologic Anatomy and Histology Cytodiagnostics and Advanced Molecular Diagnostics, IRCCS Istituto Nazionale Tumori Regina Elena Roma

Andrea Russo - Pathologic Anatomy and Histology Cytodiagnostics and Advanced Molecular Diagnostics, IRCCS Istituto Nazionale Tumori Regina Elena Roma

Viviana Gismondi - Hereditary Tumors Unit, IRCCS Ospedale Policlinico San Martino Genova

Gabriella Cirmena - Hereditary Tumors Unit, IRCCS Ospedale Policlinico San Martino Genova

Michele Paudice - DISC, IRCCS Ospedale Policlinico San Martino Genova

Umberto Malapelle - Department of Public Health, Università Federico II di Napoli, Napoli

Francesco Pepe - Department of Public Health, Università Federico II di Napoli, Napoli

Giancarlo Troncone - Department of Public Health, Università Federico II di Napoli, Napoli

Gabriella Fontanini - Laboratory of Molecular Pathology of Pathologic Anatomy. Azienda Ospedaliera Universitaria Pisana (Aoup)

Rossella Bruno - Laboratory of Molecular Pathology of Pathologic Anatomy. Azienda Ospedaliera Universitaria Pisana (Aoup)

Pinuccia Faviana - Laboratory of Molecular Pathology of Pathologic Anatomy. Azienda Ospedaliera Universitaria Pisana (Aoup)

Davide Vacirca - Division of Pathologic Anatomy, Istituto Europeo di Oncologia, IRCCS, Milano

Sergio Vincenzo Taormina - Division of Pathologic Anatomy, Istituto Europeo di Oncologia, IRCCS, Milano

Simona Francesconi - S.C. University Anatomic Pathology, Università di Perugia, Az. Osp. Santa Maria, Terni

Cecilia Caprera - S.C. University Anatomic Pathology, Università di Perugia, Az. Osp. Santa Maria, Terni

Matteo Corsi - S.C. University Anatomic Pathology, Università di Perugia, Az. Osp. Santa Maria, Terni

Sergio Bracarda - Department of Oncology and S.C. of Medical and Translational Oncology, Azienda Ospedaliera Santa Maria, Terni

Massimo Barberis - Division of Experimental Oncology, Istituto Europeo di Oncologia, IRCCS, Milano

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Copyright

Copyright (c) 2024 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Tommasi, S., Coppola, C. A., Caniglia, A., Pilato, B., Zito, F. A., Carosi, M., Melucci, E., Casini, B., Russo, A., Gismondi, V., Cirmena, G., Paudice, M., Malapelle, U., Pepe, F. ., Troncone, G., Fontanini, G., Bruno, R., Faviana, P., Vacirca, D., Taormina, S. V., Francesconi, S., Caprera, C., Corsi, M., Bracarda, S., & Barberis, M. (2024). BRCA testing in metastatic castration-resistant prostate cancer: successes and troubles in a real world setting. An Italian Multicentric study. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 116(5). https://doi.org/10.32074/1591-951X-1010
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