Original articles

Vol. 117: Issue 3 - June 2025

Homologous recombination deficiency testing in ovarian cancer: the diagnostic experience of a referral Italian institution

Authors

Francesco Pepe , Gianluca Russo , Amedeo Cefaliello , Maria Rosaria Lamia , Roberto Buonaiuto , Giuseppina Crimaldi , Claudia Scimone , Lucia Palumbo , Giuseppina Roscigno , Paola Parente , Maria Chiara De Finis , Claudia Marchetti , Pierluigi Giampaolino , Carmine De Angelis , Roberto Bianco , Giancarlo Troncone , Umberto Malapelle

Key words: ovarian neoplasms, point of care testing, molecular pathology
DOI: 10.32074/1591-951X-1098
Publication Date: 2025-07-04

Abstract

Aims. Recently, precision medicine has drastically modified clinical paradigm for the clinical stratification of high-grade serous ovarian cancer (HGSOC) patients. International societies approved poly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) to treat platinumsensitive BRCA1/2 defective HGSOC patients. Beyond BRCA1/2, functional defects in homologous recombination repair (HRR) proteins laid the basis for genomic instability evaluation in HGSOC patients. Given that measurement of homologous recombination deficiency (HRD) is extremely complex molecular analysis is outsourced. Of note, this diagnostic algorithm is affected by inconclusive results and high rejection rates. Here, we review the molecular results of BRCA1/2 and HRD analysis from referral institution in predictive molecular pathology.
Methods. From May 2023 to Jan 2024 molecular records from 147 HGSOC patients simultaneously tested for BRCA1/2 and HRD measurement were inspected. A commercially available next-generation sequencing (NGS) panel (Amoy Diagnostics Co Ltd, Xiamen, Fujian, China) was adopted to internally perform molecular analysis on formalin-fixed paraffin- embedded (FFPE) samples. In a subset of patients clinical records were matched with molecular results.
Results. Overall, 2 out of 147 (1.3%) cases were morphologically classified as inadequate. Simultaneous BRCA1/2 - HRD analysis was successfully assessed in 112 out of 145 (77.2%) patents. Molecular analysis revealed 7 out of 112 (6.2%) and 2 out of 112 (1.8%) pathogenetic or likely pathogenetic (class I-II) and variants of uncertain significance (VUS) (class III) BRCA1/2 molecular alterations, respectively. HRD score was positive in 48 out of 112 (42.8%) HGSOC patients.
Conclusions. HRD testing is a reliable method for the clinical management of HGSOC patients.

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Authors

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

Gianluca Russo - Department of Public Health, Federico II University of Naples, Naples, Italy

Amedeo Cefaliello - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

Maria Rosaria Lamia - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

Roberto Buonaiuto - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

Giuseppina Crimaldi - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

Claudia Scimone - Department of Public Health, Federico II University of Naples, Naples, Italy

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

Giuseppina Roscigno - Department of Biology, Federico II University of Naples, Italy

Paola Parente - Pathology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG)

Maria Chiara De Finis - Pathology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG)

Claudia Marchetti - Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy

Pierluigi Giampaolino - Department of Public Health, Federico II University of Naples, Naples, Italy

Carmine De Angelis - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

Roberto Bianco - Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

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

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

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Copyright

Copyright (c) 2025 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Pepe, F., Russo, G., Cefaliello, A., Lamia, M. R., Buonaiuto, R., Crimaldi, G., Scimone, C., Palumbo, L., Roscigno, G., Parente, P., De Finis, M. C. ., Marchetti, C., Giampaolino, P., De Angelis, C. ., Bianco, R., Troncone, G., & Malapelle, U. (2025). Homologous recombination deficiency testing in ovarian cancer: the diagnostic experience of a referral Italian institution. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 117(3). https://doi.org/10.32074/1591-951X-1098
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