IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients
Abstract Background Circulating cell-free DNA (cfDNA, liquid biopsy) is a powerful tool to detect molecular alterations. However, depending on tumor characteristics, biology and anatomic localization, cfDNA detection and analysis may be challenging. Gliomas are enclosed into an anatomic sanctuary, w...
| Principais autores: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
BMC
2024-01-01
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| coleção: | BMC Cancer |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12885-023-11726-0 |
| _version_ | 1827388413594042368 |
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| author | Stefania Crucitta Francesco Pasqualetti Alessandra Gonnelli Martina Ruglioni Giovanna Irene Luculli Martina Cantarella Valerio Ortenzi Cristian Scatena Fabiola Paiar Antonio Giuseppe Naccarato Romano Danesi Marzia Del Re |
| author_facet | Stefania Crucitta Francesco Pasqualetti Alessandra Gonnelli Martina Ruglioni Giovanna Irene Luculli Martina Cantarella Valerio Ortenzi Cristian Scatena Fabiola Paiar Antonio Giuseppe Naccarato Romano Danesi Marzia Del Re |
| author_sort | Stefania Crucitta |
| collection | DOAJ |
| description | Abstract Background Circulating cell-free DNA (cfDNA, liquid biopsy) is a powerful tool to detect molecular alterations. However, depending on tumor characteristics, biology and anatomic localization, cfDNA detection and analysis may be challenging. Gliomas are enclosed into an anatomic sanctuary, which obstacles the release of cfDNA into the peripheral blood. Therefore, the advantages of using liquid biopsy for brain tumors is still to be confirmed. The present study evaluates the ability of liquid biopsy to detect IDH1 mutations and its correlation with survival and clinical characteristics of glioma patients. Methods Blood samples obtained from glioma patients were collected after surgery prior to the adjuvant therapy. cfDNA was extracted from plasma and IDH1 p.R132H mutation analysis was performed on a digital droplet PCR. χ2-test and Cohen k were used to assess the correlation between plasma and tissue IDH1 status, while Kaplan Meier curve and Cox regression analysis were applied to survival analysis. Statistical calculations were performed by MedCalc and GraphPad Prism software. Results A total of 67 samples were collected. A concordance between IDH1 status in tissue and in plasma was found (p = 0.0024), and the presence of the IDH1 mutation both in tissue (138.8 months vs 24.4, p < 0.0001) and cfDNA (116.3 months vs 35.8, p = 0.016) was associated with longer median OS. A significant association between IDH1 mutation both in tissue and cfDNA, age, tumor grade and OS was demonstrated by univariate Cox regression analysis. No statistically significant association between IDH1 mutation and tumor grade was found (p = 0.10). Conclusions The present study demonstrates that liquid biopsy may be used in brain tumors to detect IDH1 mutation which represents an important prognostic biomarker in patients with different types of gliomas, being associated to OS. |
| first_indexed | 2024-03-08T16:17:26Z |
| format | Article |
| id | doaj.art-8711305b7cb2476693f032c8b3a5f8d5 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-03-08T16:17:26Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-8711305b7cb2476693f032c8b3a5f8d52024-01-07T12:29:59ZengBMCBMC Cancer1471-24072024-01-0124111010.1186/s12885-023-11726-0IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patientsStefania Crucitta0Francesco Pasqualetti1Alessandra Gonnelli2Martina Ruglioni3Giovanna Irene Luculli4Martina Cantarella5Valerio Ortenzi6Cristian Scatena7Fabiola Paiar8Antonio Giuseppe Naccarato9Romano Danesi10Marzia Del Re11Unit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of PisaRadiation Oncology, Department of Medicine and Oncology, University of PisaRadiation Oncology, Department of Medicine and Oncology, University of PisaUnit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of PisaUnit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of PisaRadiation Oncology, Department of Medicine and Oncology, University of PisaDivision of Pathology, Department of Translational Research & New Technologies in Medicine & Surgery, University of PisaDivision of Pathology, Department of Translational Research & New Technologies in Medicine & Surgery, University of PisaRadiation Oncology, Department of Medicine and Oncology, University of PisaDivision of Pathology, Department of Translational Research & New Technologies in Medicine & Surgery, University of PisaUnit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of PisaUnit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of PisaAbstract Background Circulating cell-free DNA (cfDNA, liquid biopsy) is a powerful tool to detect molecular alterations. However, depending on tumor characteristics, biology and anatomic localization, cfDNA detection and analysis may be challenging. Gliomas are enclosed into an anatomic sanctuary, which obstacles the release of cfDNA into the peripheral blood. Therefore, the advantages of using liquid biopsy for brain tumors is still to be confirmed. The present study evaluates the ability of liquid biopsy to detect IDH1 mutations and its correlation with survival and clinical characteristics of glioma patients. Methods Blood samples obtained from glioma patients were collected after surgery prior to the adjuvant therapy. cfDNA was extracted from plasma and IDH1 p.R132H mutation analysis was performed on a digital droplet PCR. χ2-test and Cohen k were used to assess the correlation between plasma and tissue IDH1 status, while Kaplan Meier curve and Cox regression analysis were applied to survival analysis. Statistical calculations were performed by MedCalc and GraphPad Prism software. Results A total of 67 samples were collected. A concordance between IDH1 status in tissue and in plasma was found (p = 0.0024), and the presence of the IDH1 mutation both in tissue (138.8 months vs 24.4, p < 0.0001) and cfDNA (116.3 months vs 35.8, p = 0.016) was associated with longer median OS. A significant association between IDH1 mutation both in tissue and cfDNA, age, tumor grade and OS was demonstrated by univariate Cox regression analysis. No statistically significant association between IDH1 mutation and tumor grade was found (p = 0.10). Conclusions The present study demonstrates that liquid biopsy may be used in brain tumors to detect IDH1 mutation which represents an important prognostic biomarker in patients with different types of gliomas, being associated to OS.https://doi.org/10.1186/s12885-023-11726-0Liquid biopsycfDNAIDH1Glioma |
| spellingShingle | Stefania Crucitta Francesco Pasqualetti Alessandra Gonnelli Martina Ruglioni Giovanna Irene Luculli Martina Cantarella Valerio Ortenzi Cristian Scatena Fabiola Paiar Antonio Giuseppe Naccarato Romano Danesi Marzia Del Re IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients BMC Cancer Liquid biopsy cfDNA IDH1 Glioma |
| title | IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients |
| title_full | IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients |
| title_fullStr | IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients |
| title_full_unstemmed | IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients |
| title_short | IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients |
| title_sort | idh1 mutation is detectable in plasma cell free dna and is associated with survival outcome in glioma patients |
| topic | Liquid biopsy cfDNA IDH1 Glioma |
| url | https://doi.org/10.1186/s12885-023-11726-0 |
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