Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience

Autor: Francesco Pepe, Gianluca Russo, Alessandro Venuta, Claudia Scimone, Mariantonia Nacchio, Pasquale Pisapia, Gaia Goteri, Francesca Barbisan, Caterina Chiappetta, Angelina Pernazza, Domenico Campagna, Marco Giordano, Giuseppe Perrone, Giovanna Sabarese, Annalisa Altimari, Dario de Biase, Giovanni Tallini, Daniele Calistri, Elisa Chiadini, Laura Capelli, Alfredo Santinelli, Anna Elisa Gulini, Elisa Pierpaoli, Manuela Badiali, Stefania Murru, Riccardo Murgia, Elena Guerini Rocco, Konstantinos Venetis, Nicola Fusco, Denise Morotti, Andrea Gianatti, Daniela Furlan, Giulio Rossi, Laura Melocchi, Maria Russo, Caterina De Luca, Lucia Palumbo, Saverio Simonelli, Antonella Maffè, Paola Francia di Celle, Tiziana Venesio, Maria Scatolini, Enrico Grosso, Sara Orecchia, Matteo Fassan, Mariangela Balistreri, Elisabetta Zulato, Daniela Reghellin, Elena Lazzari, Maria Santacatterina, Maria Liliana Piredda, Manuela Riccardi, Licia Laurino, Elena Roz, Domenico Longo, Daniela Petronilla Romeo, Carmine Fazzari, Andrea Moreno-Manuel, Giuseppe Diego Puglia, Andrey D. Prjibelski, Daria Shafranskaya, Luisella Righi, Angela Listì, Domenico Vitale, Antonino Iaccarino, Umberto Malapelle, Giancarlo Troncone
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Oncology and Therapy, Vol 12, Iss 1, Pp 73-95 (2024)
Druh dokumentu: article
ISSN: 2366-1070
2366-1089
DOI: 10.1007/s40487-023-00252-5
Popis: Abstract Introduction Biomarker testing is mandatory for the clinical management of patients with advanced non-small cell lung cancer (NSCLC). Myriads of technical platforms are now available for biomarker analysis with differences in terms of multiplexing capability, analytical sensitivity, and turnaround time (TAT). We evaluated the technical performance of the diagnostic workflows of 24 representative Italian institutions performing molecular tests on a series of artificial reference specimens built to mimic routine diagnostic samples. Methods Sample sets of eight slides from cell blocks of artificial reference specimens harboring exon 19 EGFR (epidermal growth factor receptor) p.E746_AT50del, exon 2 KRAS (Kirsten rat sarcoma viral oncogene homologue) p.G12C, ROS1 (c-ros oncogene 1)-unknown gene fusion, and MET (MET proto-oncogene, receptor tyrosine kinase) Δ exon 14 skipping were distributed to each participating institution. Two independent cell block specimens were validated by the University of Naples Federico II before shipment. Methodological and molecular data from reference specimens were annotated. Results Overall, a median DNA concentration of 3.3 ng/µL (range 0.1–10.0 ng/µL) and 13.4 ng/µL (range 2.0–45.8 ng/µL) were obtained with automated and manual technical procedures, respectively. RNA concentrations of 5.7 ng/µL (range 0.2–11.9 ng/µL) and 9.3 ng/µL (range 0.5–18.0 ng/µL) were also detected. KRAS exon 2 p.G12C, EGFR exon 19 p.E736_A750del hotspot mutations, and ROS1 aberrant transcripts were identified in all tested cases, whereas 15 out of 16 (93.7%) centers detected MET exon 14 skipping mutation. Conclusions Optimized technical workflows are crucial in the decision-making strategy of patients with NSCLC. Artificial reference specimens enable optimization of diagnostic workflows for predictive molecular analysis in routine clinical practice.
Databáze: Directory of Open Access Journals
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