Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows
Purpose: To assess the qualitative relationship between liquid biopsy and conventional tissue biopsy. As a secondary target, we evaluated the relationship between the liquid biopsy results and the T stage, N stage, M stage, and compared to grading. Methods: The Local Ethics Committee of the “Univers...
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MDPI AG
2022-11-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/11/1896 |
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| author | Marco Montella Giovanni Ciani Vincenza Granata Roberta Fusco Francesca Grassi Andrea Ronchi Immacolata Cozzolino Renato Franco Federica Zito Marino Fabrizio Urraro Riccardo Monti Roberto Sirica Giovanni Savarese Ugo Chianese Angela Nebbioso Lucia Altucci Maria Teresa Vietri Valerio Nardone Alfonso Reginelli Roberta Grassi |
| author_facet | Marco Montella Giovanni Ciani Vincenza Granata Roberta Fusco Francesca Grassi Andrea Ronchi Immacolata Cozzolino Renato Franco Federica Zito Marino Fabrizio Urraro Riccardo Monti Roberto Sirica Giovanni Savarese Ugo Chianese Angela Nebbioso Lucia Altucci Maria Teresa Vietri Valerio Nardone Alfonso Reginelli Roberta Grassi |
| author_sort | Marco Montella |
| collection | DOAJ |
| description | Purpose: To assess the qualitative relationship between liquid biopsy and conventional tissue biopsy. As a secondary target, we evaluated the relationship between the liquid biopsy results and the T stage, N stage, M stage, and compared to grading. Methods: The Local Ethics Committee of the “Università degli Studi della Campania Luigi Vanvitelli”, with the internal resolution number 24997/2020 of 12.11.2020, approved this spontaneous prospective study. According to the approved protocol, patients with lung cancer who underwent Fine-Needle Aspiration Cytology (FNAC), CT-guided biopsy, and liquid biopsy were enrolled. A Yates chi-square test was employed to analyze differences in percentage values of categorical variables. A <i>p</i>-value < 0.05 was considered statistically significant. Data analysis was performed using the Matlab Statistic Toolbox (The MathWorks, Inc., Natick, MA, USA). Results: When a genetic mutation is present on the pathological examination, this was also detected on the liquid biopsy. ROS1 and PDL1 mutations were found in 2/29 patients, while EGFR Exon 21 was identified in a single patient. At liquid biopsy, 26 mutations were identified in the analyzed samples. The mutations with the highest prevalence rate in the study populations were: ALK (Ile1461Val), found in 28/29 patients (96.6%), EML4 (Lys398Arg), identified in 16/29 (55.2%) patients, ALK (Asp1529Glu), found in 14/29 (48.3%) patients, EGFR (Arg521Lys), found in 12/29 (41.4%) patients, ROS (Lys2228Gln), identified in 11/29 (37.9%) patients, ROS (Arg167Gln) and ROS (Ser2229Cys), identified in 10/29 (34.5%) patients, ALK (Lys1491Arg) and PIK3CA (Ile391Met), identified in 8/29 (27.6%) patients, ROS (Thr145Pro), identified in 6/29 (20.7%) patients, and ROS (Ser1109Leu), identified in 4/29 (13.8%) patients. No statistically significant differences can be observed in the mutation rate between the adenocarcinoma population and the squamous carcinoma population (<i>p</i> > 0.05, Yates chi-square test). Conclusions: We showed that, when a genetic mutation was detected in pathological examination, this was always detected by liquid biopsy, demonstrating a very high concordance rate of genomic testing between tissues and their corresponding mutations obtained by liquid biopsy, without cases of false-negative results. In addition, in our study, liquid biopsy highlighted 26 mutations, with the prevalence of ALK mutation in 96.6% of patients, supporting the idea that this approach could be an effective tool in cases with insufficient tumor tissue specimens or in cases where tissue specimens are not obtainable. |
| first_indexed | 2024-03-09T18:13:38Z |
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| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T18:13:38Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-3dcb6c946dfd485498a32d58a63ffacc2023-11-24T08:54:05ZengMDPI AGJournal of Personalized Medicine2075-44262022-11-011211189610.3390/jpm12111896Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and ShadowsMarco Montella0Giovanni Ciani1Vincenza Granata2Roberta Fusco3Francesca Grassi4Andrea Ronchi5Immacolata Cozzolino6Renato Franco7Federica Zito Marino8Fabrizio Urraro9Riccardo Monti10Roberto Sirica11Giovanni Savarese12Ugo Chianese13Angela Nebbioso14Lucia Altucci15Maria Teresa Vietri16Valerio Nardone17Alfonso Reginelli18Roberta Grassi19Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDivision of Radiology, Istituto Nazionale Tumori IRCCS Fondazione Pascale-IRCCS di Napoli, 80131 Naples, ItalyMedical Oncology Division, Igea SpA, 80013 Napoli, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyPathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, ItalyPathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, ItalyPathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, ItalyPathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyAMES-Centro Polidiagnostico Strumentale, SRL, 80013 Naples, ItalyAMES-Centro Polidiagnostico Strumentale, SRL, 80013 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyDepartment of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, ItalyPurpose: To assess the qualitative relationship between liquid biopsy and conventional tissue biopsy. As a secondary target, we evaluated the relationship between the liquid biopsy results and the T stage, N stage, M stage, and compared to grading. Methods: The Local Ethics Committee of the “Università degli Studi della Campania Luigi Vanvitelli”, with the internal resolution number 24997/2020 of 12.11.2020, approved this spontaneous prospective study. According to the approved protocol, patients with lung cancer who underwent Fine-Needle Aspiration Cytology (FNAC), CT-guided biopsy, and liquid biopsy were enrolled. A Yates chi-square test was employed to analyze differences in percentage values of categorical variables. A <i>p</i>-value < 0.05 was considered statistically significant. Data analysis was performed using the Matlab Statistic Toolbox (The MathWorks, Inc., Natick, MA, USA). Results: When a genetic mutation is present on the pathological examination, this was also detected on the liquid biopsy. ROS1 and PDL1 mutations were found in 2/29 patients, while EGFR Exon 21 was identified in a single patient. At liquid biopsy, 26 mutations were identified in the analyzed samples. The mutations with the highest prevalence rate in the study populations were: ALK (Ile1461Val), found in 28/29 patients (96.6%), EML4 (Lys398Arg), identified in 16/29 (55.2%) patients, ALK (Asp1529Glu), found in 14/29 (48.3%) patients, EGFR (Arg521Lys), found in 12/29 (41.4%) patients, ROS (Lys2228Gln), identified in 11/29 (37.9%) patients, ROS (Arg167Gln) and ROS (Ser2229Cys), identified in 10/29 (34.5%) patients, ALK (Lys1491Arg) and PIK3CA (Ile391Met), identified in 8/29 (27.6%) patients, ROS (Thr145Pro), identified in 6/29 (20.7%) patients, and ROS (Ser1109Leu), identified in 4/29 (13.8%) patients. No statistically significant differences can be observed in the mutation rate between the adenocarcinoma population and the squamous carcinoma population (<i>p</i> > 0.05, Yates chi-square test). Conclusions: We showed that, when a genetic mutation was detected in pathological examination, this was always detected by liquid biopsy, demonstrating a very high concordance rate of genomic testing between tissues and their corresponding mutations obtained by liquid biopsy, without cases of false-negative results. In addition, in our study, liquid biopsy highlighted 26 mutations, with the prevalence of ALK mutation in 96.6% of patients, supporting the idea that this approach could be an effective tool in cases with insufficient tumor tissue specimens or in cases where tissue specimens are not obtainable.https://www.mdpi.com/2075-4426/12/11/1896liquid biopsyconventional biopsylung cancer |
| spellingShingle | Marco Montella Giovanni Ciani Vincenza Granata Roberta Fusco Francesca Grassi Andrea Ronchi Immacolata Cozzolino Renato Franco Federica Zito Marino Fabrizio Urraro Riccardo Monti Roberto Sirica Giovanni Savarese Ugo Chianese Angela Nebbioso Lucia Altucci Maria Teresa Vietri Valerio Nardone Alfonso Reginelli Roberta Grassi Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows Journal of Personalized Medicine liquid biopsy conventional biopsy lung cancer |
| title | Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows |
| title_full | Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows |
| title_fullStr | Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows |
| title_full_unstemmed | Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows |
| title_short | Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows |
| title_sort | preliminary experience of liquid biopsy in lung cancer compared to conventional assessment light and shadows |
| topic | liquid biopsy conventional biopsy lung cancer |
| url | https://www.mdpi.com/2075-4426/12/11/1896 |
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