http://localhost:8080/handle/lib/215 Sat, 10 Oct 2026 05:40:05 GMT 2026-10-10T05:40:05Z http://localhost:8080/handle/lib/4453 Title: Standard operating procedures for biobank in oncology Authors: Bonizzi, G.; Zattoni, L.; Capra, M.; Cassi, C.; Taliento, G; Ivanova, M.; Guerini-Rocco, E.; Fumagalli, M.; Monturano, M.; Albini, A.; Viale, G.; Orecchia, R.; Fusco, N. Abstract: Biobanks are biorepositories that collect, process, store, catalog, and distribute human biological samples, and record the associated data. The role and action field of these strategic infrastructures for implementing precision medicine in translational research is continuously evolving. To ensure the optimal quality at all stages of biobanking, specific protocols are required and should be elaborated according to updated guidelines, recommendations, laws, and rules. This article illustrates the standard operating procedures, including protocols, troubleshooting, and quality controls, of a fully certified biobank in a referral Cancer Center. This model involves all clinical departments and research groups to support the dual mission of academic cancer centers, i.e. to provide high-quality care and high-quality research. All biobanking activities based on the type of biological specimens are detailed and the most tricky methodological aspects are discussed, from patients’ informed consent to specimen management. Sat, 01 Jan 2022 00:00:00 GMT http://localhost:8080/handle/lib/4453 2022-01-01T00:00:00Z http://localhost:8080/handle/lib/4452 Title: Analytical Performance of Next-Generation Sequencing and RT-PCR on Formalin-Fixed Paraffin-Embedded Tumor Tissues for PIK3CA Testing in HR+/HER2− Breast Cancer Authors: Venetis, K.; Pepe, F.; Munzone, E.; Sajjadi, E.; Russo, G.; Pisapia, P.; Ivanova, M.; Bonizzi, G.; Vacirca, D.; Rappa, A.; Ranghiero, A.; Taormina, SV.; Viale, G.; Troncone, G.; Barberis, M.; Guerini-Rocco, E.; Malapelle, U.; Fusco, N. Abstract: Somatic mutations in PIK3CA are present in ~40% breast cancers (BC); their detection in hormone receptor (HR)+/HER2− tumors allows for selecting patients with advanced disease eligible for PIK3CA targeting with alpelisib. The choice of what type of PIK3CA testing approach to adopt and which tissue sample to analyze is a new task in breast pathology. In this methodological study, we sought to assess the performance of next-generation sequencing (NGS) and RT-PCR for PIK3CA testing on archival formalin-fixed paraffin-embedded (FFPE) primary tumors and corresponding metastases. Sixteen HR+/HER2− BC with known PIK3CA-mutated status (ex. 7, 9, and 20) on metastatic samples by means of amplicon-based targeted NGS were selected, and n = 13 of these samples were re-tested with a commercially available CE-IVD RT-PCR assay. All available primary tumors (n = 8) were tested with both methods. NGS detected mutations in all samples, while RT-PCR in n = 2 sample-pairs and overall, in n = 5/8 (62.5%) primary tumors and 7/13 (53.8%) metastases (κ = 0.09; 95% CI, −0.69–0.87). Slight agreement (κ = 0; 95% CI, −0.59–0.59) was observed between NGS and RT-PCR, with the former being generally more sensitive in cases with low DNA quality and quantity. Post hoc visual inspection of the RT-PCR data increased the concordance to 76.9%. Targeted NGS offers reliable and robust PIK3CA testing on both tumor and metastasis FFPE samples; the accuracy of RT-PCR depends on the DNA quantity and quality. In HR+/HER2− BC, both the selection of the PIK3CA testing strategy of FFPE tissues and which sample to analyze should consider several technical parameters and should be tailored for each case. Sat, 01 Jan 2022 00:00:00 GMT http://localhost:8080/handle/lib/4452 2022-01-01T00:00:00Z http://localhost:8080/handle/lib/4451 Title: Improving HER2 testing reproducibility in HER2-low breast cancer Authors: Sajjadi, E.; Venetis, K.; Ivanova, M.; Fusco, N. Abstract: HER2 is a pillar biomarker in breast cancer, and it is assessed by immunohistochemistry (IHC) using a three-tier scoring system and reflex in situ hybridization (ISH) for IHC score 2+. Novel HER2-directed antibody-drug conjugates have demonstrated significant antitumor activity in breast cancers with low levels of HER2 expression, i.e. IHC score 1+ or ISH-negative IHC score 2+. Both primary and acquired resistance to anti-HER2 therapies remains a challenge in the treatment of breast cancers according to the HER2 positivity continuum. Thus, the ability to precisely discriminate among HER2-zero, HER2-low, and HER2-positive breast cancers is no longer a mere academic exercise. HER2 testing criteria, guidelines, and quality controls are re-gaining momentum for this new clinical need. Therefore, all preanalytical and analytical variables that might trouble the sensitivity and reproducibility of this test should be carefully considered to address all possible issues and open all possible therapeutic opportunities for breast cancer patients. Sat, 01 Jan 2022 00:00:00 GMT http://localhost:8080/handle/lib/4451 2022-01-01T00:00:00Z http://localhost:8080/handle/lib/4450 Title: Loss of HER2 in breast cancer: biological mechanisms and technical pitfalls Authors: Morganti, S.; Ivanova, M.; Ferraro, E.; Ascione, L.; Vivanet, G.; Bonizzi, G.; Curigliano, G.; Fusco, N.; Criscitiello, C. Abstract: Loss of HER2 in previously HER2-positive breast tumors is not rare, occurring in up to 50% of breast cancers; however, clinical research and practice underestimate this issue. Many studies have reported the loss of HER2 after neoadjuvant therapy and at metastatic relapse and identified clinicopathological variables more frequently associated with this event. Nevertheless, the biological mechanisms underlying HER2 loss are still poorly understood. HER2 downregulation, intratumoral heterogeneity, clonal selection, and true subtype switch have been suggested as potential causes of HER2 loss, but translational studies specifically investigating the biology behind HER2 loss are virtually absent. On the other side, technical pitfalls may justify HER2 loss in some of these samples. The best treatment strategy for patients with HER2 loss is currently unknown. Considering the prevalence of this phenomenon and its apparent correlation with worse outcomes, we believe that correlative studies specifically addressing HER2 loss are warranted. Sat, 01 Jan 2022 00:00:00 GMT http://localhost:8080/handle/lib/4450 2022-01-01T00:00:00Z