Comparison of digital PCR systems for the analysis of liquid biopsy samples of patients affected by lung and colorectal cancer

•Digital PCR is useful for tumor molecular characterization via liquid biopsy.•A moderate agreement between droplet and solid digital PCR was observed.•Solid digital PCR has a higher sensitivity in the detection of mutated cases. Highly sensitive technologies are available for the molecular characte...

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Veröffentlicht in:Clinica chimica acta 2023-02, Vol.541, p.117239-117239, Article 117239
Hauptverfasser: Crucitta, Stefania, Ruglioni, Martina, Novi, Claudia, Manganiello, Mascia, Arici, Roberta, Petrini, Iacopo, Pardini, Eleonora, Cucchiara, Federico, Marmorino, Federica, Cremolini, Chiara, Fogli, Stefano, Danesi, Romano, Del Re, Marzia
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Sprache:eng
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Zusammenfassung:•Digital PCR is useful for tumor molecular characterization via liquid biopsy.•A moderate agreement between droplet and solid digital PCR was observed.•Solid digital PCR has a higher sensitivity in the detection of mutated cases. Highly sensitive technologies are available for the molecular characterization of solid tumors, including digital PCR (dPCR). Liquid biopsy, based on the analysis of cell-free DNA (cfDNA), is often used to assess EGFR or RAS alterations in lung and colorectal cancers. Our study aimed to compare the results of two different dPCR platforms for the detection of mutations in cfDNA. Plasma samples from lung and colorectal cancer patients collected as per routine procedures have been tested. cfDNA Was extracted from plasma, and samples were screened on the droplet digital PCR (ddPCR, BioRad) and solid dPCR QIAcuity (Qiagen). A total of 42 samples were analyzed, obtained from 20 Non-Small Cell Lung Cancer (NSCLC) patients carrying an EGFR or a KRAS mutation on tissue at diagnosis, and from 22 samples of colorectal cancer (CRC) patients, 10 of which presenting a KRAS mutation. EGFR mutation detection was 58.8% for ddPCR and 100% for dPCR (κ = 0.54; 95% CI, 0.37–0.71), compared to tissue results. The detection rate for RAS mutations was 72.7% for ddPCR and 86.4% for dPCR (κ = 0.34; 95% CI, 0.01–0.68), compared to tissue results. This study showed moderate agreement between dPCR and ddPCR. Sampling effect or threshold settings may potentially explain the differences in the cfDNA data between the two different platforms.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2023.117239