Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution
Background: Lung cancer is the leading cause of cancer death worldwide. Over the last decade, molecular testing of a growing number of predictive biomarkers has become mandatory in the management of NSCLC patients. However, a major obstacle in routine clinical practice is the scant quantity of avail...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | The Journal of Liquid Biopsy |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950195423001285 |
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| author | Caterina de Luca Gianluca Russo Mariantonia Nacchio Maria Ingenito Lucia Palumbo Gianluca Gragnano Floriana Conticelli Maria Russo Danilo Rocco Cesare Gridelli Roberto Bianco Domenico Galetta Giancarlo Troncone Paola Parente Antonino Iaccarino |
| author_facet | Caterina de Luca Gianluca Russo Mariantonia Nacchio Maria Ingenito Lucia Palumbo Gianluca Gragnano Floriana Conticelli Maria Russo Danilo Rocco Cesare Gridelli Roberto Bianco Domenico Galetta Giancarlo Troncone Paola Parente Antonino Iaccarino |
| author_sort | Caterina de Luca |
| collection | DOAJ |
| description | Background: Lung cancer is the leading cause of cancer death worldwide. Over the last decade, molecular testing of a growing number of predictive biomarkers has become mandatory in the management of NSCLC patients. However, a major obstacle in routine clinical practice is the scant quantity of available tissue specimens obtainable from advanced stage of NSCLC patients. Thus, liquid biopsy, mostly involving blood sampling, has now been integrated in routine diagnostic practice. However, although liquid biopsies constitute a versatile, compliant, and dynamic source of nucleic acids, many of the current testing approaches pose few technical challenges. Here, to validate the feasibility of implementing NGS-based liquid biopsy approaches in routine diagnostic practice, we overviewed the NGS molecular data generated by our in-house narrow gene panel on plasma samples from real-world NSCLC patients. Methods: Our Institution received testing request on liquid biopsy samples from peripheral institutions not equipped to internally analyze liquid biopsy samples. Molecular data from NSCLC patients following oncological requested for clinically approved plasma-based biomarkers evaluated in a diagnostic routine setting from January 2020 to September 2022 were retrieved from our institutional archive. A customized NGS panel integrated with an optimized bioinformatic pipeline was adopted. Results: Overall, a total of n = 185 cases were retrieved. Of note, 103 (55.7 %) and 82 (44.3 %) patients were analyzed at basal setting and after resistance to first line TKI administration, respectively. Moreover, 31 out of 185 (16.7 %) cases reveled EGFR clinically relevant alterations. In particular, 6 out of 31 (19.3 %) and 25 out 31 (80.7 %) EGFR mutated patients were tested in basal setting and after first or second line TKIs progression. In addition, exon 20 p.T790 M mutation was also detected in 12 out of 25 (48.0 %) EGFR concomitant mutated cases. Moreover, KRAS hot spot mutations were found in 24 out of 185 (13.0 %) cases. Among them, exon 2 p.G12C clinically relevant mutations were observed in 8 out 24 cases (33.3 %). Conclusions: This review highlights the technical suitability of an NGS-based liquid biopsy system for the analysis of clinically relevant mutations in NSCLC patients. |
| format | Article |
| id | doaj-art-cb61580502a54b7eb33b7dddd64b9c25 |
| institution | Kabale University |
| issn | 2950-1954 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | The Journal of Liquid Biopsy |
| spelling | doaj-art-cb61580502a54b7eb33b7dddd64b9c252024-11-22T07:41:25ZengElsevierThe Journal of Liquid Biopsy2950-19542023-12-012100128Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institutionCaterina de Luca0Gianluca Russo1Mariantonia Nacchio2Maria Ingenito3Lucia Palumbo4Gianluca Gragnano5Floriana Conticelli6Maria Russo7Danilo Rocco8Cesare Gridelli9Roberto Bianco10Domenico Galetta11Giancarlo Troncone12Paola Parente13Antonino Iaccarino14Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyPneumo-Oncology Unit, Ospedali dei Colli Monaldi Cotugno CTO, Napoli, ItalyDivision of Medical Oncology, “S. G. Moscati” Hospital, Avellino, ItalyDepartment of Clinical Medicine and Surgery, University of Naples “Federico II”, 80131, Naples, ItalyMedical Thoracic Oncology Unit, IRCCS Istituto Tumori “Giovanni Paolo II”, 70124, Bari, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy; Corresponding author. Department of Public Health, University Federico II of Naples, Italy.Pathology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, FG, ItalyDepartment of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, ItalyBackground: Lung cancer is the leading cause of cancer death worldwide. Over the last decade, molecular testing of a growing number of predictive biomarkers has become mandatory in the management of NSCLC patients. However, a major obstacle in routine clinical practice is the scant quantity of available tissue specimens obtainable from advanced stage of NSCLC patients. Thus, liquid biopsy, mostly involving blood sampling, has now been integrated in routine diagnostic practice. However, although liquid biopsies constitute a versatile, compliant, and dynamic source of nucleic acids, many of the current testing approaches pose few technical challenges. Here, to validate the feasibility of implementing NGS-based liquid biopsy approaches in routine diagnostic practice, we overviewed the NGS molecular data generated by our in-house narrow gene panel on plasma samples from real-world NSCLC patients. Methods: Our Institution received testing request on liquid biopsy samples from peripheral institutions not equipped to internally analyze liquid biopsy samples. Molecular data from NSCLC patients following oncological requested for clinically approved plasma-based biomarkers evaluated in a diagnostic routine setting from January 2020 to September 2022 were retrieved from our institutional archive. A customized NGS panel integrated with an optimized bioinformatic pipeline was adopted. Results: Overall, a total of n = 185 cases were retrieved. Of note, 103 (55.7 %) and 82 (44.3 %) patients were analyzed at basal setting and after resistance to first line TKI administration, respectively. Moreover, 31 out of 185 (16.7 %) cases reveled EGFR clinically relevant alterations. In particular, 6 out of 31 (19.3 %) and 25 out 31 (80.7 %) EGFR mutated patients were tested in basal setting and after first or second line TKIs progression. In addition, exon 20 p.T790 M mutation was also detected in 12 out of 25 (48.0 %) EGFR concomitant mutated cases. Moreover, KRAS hot spot mutations were found in 24 out of 185 (13.0 %) cases. Among them, exon 2 p.G12C clinically relevant mutations were observed in 8 out 24 cases (33.3 %). Conclusions: This review highlights the technical suitability of an NGS-based liquid biopsy system for the analysis of clinically relevant mutations in NSCLC patients.http://www.sciencedirect.com/science/article/pii/S2950195423001285Liquid biopsyLung cancerPredictive biomarkers |
| spellingShingle | Caterina de Luca Gianluca Russo Mariantonia Nacchio Maria Ingenito Lucia Palumbo Gianluca Gragnano Floriana Conticelli Maria Russo Danilo Rocco Cesare Gridelli Roberto Bianco Domenico Galetta Giancarlo Troncone Paola Parente Antonino Iaccarino Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution The Journal of Liquid Biopsy Liquid biopsy Lung cancer Predictive biomarkers |
| title | Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution |
| title_full | Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution |
| title_fullStr | Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution |
| title_full_unstemmed | Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution |
| title_short | Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution |
| title_sort | liquid biopsy for lung cancer a cross section on the diagnostic routine experience of a referral italian institution |
| topic | Liquid biopsy Lung cancer Predictive biomarkers |
| url | http://www.sciencedirect.com/science/article/pii/S2950195423001285 |
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