| Autor: |
Magliacane G; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Brunetto E; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Calzavara S; Laboratory of Clinical Molecular Biology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Bergamini A; Obstetrics and Gynecology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Pipitone GB; Laboratory of Clinical Molecular Biology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Marra G; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Redegalli M; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Grassini G; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Rabaiotti E; Obstetrics and Gynecology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Taccagni G; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Pecciarini L; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Carrera P; Laboratory of Clinical Molecular Biology, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Mangili G; Obstetrics and Gynecology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Doglioni C; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Cangi MG; Pathology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy. |
| Abstrakt: |
Assessment of HRD status is now essential for ovarian cancer patient management. A relevant percentage of high-grade serous carcinoma (HGSC) is characterized by HRD, which is caused by genetic alterations in the homologous recombination repair (HRR) pathway. Recent trials have shown that not only patients with pathogenic/likely pathogenic BRCA variants, but also BRCAwt /HRD patients, are sensitive to PARPis and platinum therapy. The most common HRD test is Myriad MyChoice CDx, but there is a pressing need to offer an alternative to outsourcing analysis, which typically requires high costs and lengthy turnaround times. In order to set up a complete in-house workflow for HRD testing, we analyzed a small cohort of HGSC patients using the CE-IVD AmoyDx HRD Focus Panel and compared our results with Myriad's. In addition, to further deepen the mechanisms behind HRD, we analyzed the study cohort by using both a custom NGS panel that analyzed 21 HRR-related genes and FISH analysis to determine the copy numbers of PTEN and EMSY . We found complete concordance in HRD status detected by the Amoy and the Myriad assays, supporting the feasibility of internal HRD testing. |
