Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis
Liquid biopsy based on circulating cell-free DNA (cfDNA) is a promising non-invasive tool for the prognosis of hepatocellular cancer (HCC). In this exploratory study we investigated whether cfDNA and gene variants associated with HCC may be found in patients with liver cirrhosis (LC) and thus identi...
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| Format: | Article |
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MDPI AG
2021-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/13/3/521 |
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| author | Marianna Alunni-Fabbroni Sabine Weber Osman Öcal Max Seidensticker Julia Mayerle Peter Malfertheiner Jens Ricke |
| author_facet | Marianna Alunni-Fabbroni Sabine Weber Osman Öcal Max Seidensticker Julia Mayerle Peter Malfertheiner Jens Ricke |
| author_sort | Marianna Alunni-Fabbroni |
| collection | DOAJ |
| description | Liquid biopsy based on circulating cell-free DNA (cfDNA) is a promising non-invasive tool for the prognosis of hepatocellular cancer (HCC). In this exploratory study we investigated whether cfDNA and gene variants associated with HCC may be found in patients with liver cirrhosis (LC) and thus identify those at an increased risk for HCC. A cohort of 40 LC patients with no suspect neoplastic lesions was included in this study. Next generation sequencing (NGS) of cfDNA isolated from plasma was performed on a panel of 597 selected genes. Images of the patients who underwent MRI with hepatospecific contrast media during the study period were retrospectively re-evaluated (imaging was not part of the prospective study). cfDNA was detected in the plasma of 36 patients with LC. NGS-based analyses identified 20 variants in different combinations. Re-evaluation of the MRI images that were available for a proportion of the patients (<i>n</i> = 27) confirmed the absence of lesions in 8 cases carrying cfDNA without variants. In 6 of 19 patients with identified variants and MRI images available, MRI revealed a precursor lesion compatible with HCC and new lesions were discovered at follow-up in two patients. These precursor lesions were amenable for curative treatments. Mutation analysis revealed selective HCC related gene mutations in a subset of patients with LC, raising the suspect that these patients were at an increased risk for HCC development. MRI findings confirmed suspect nodular lesions of early stage HCC not detected with current standard screening procedures, which were only seen in patients carrying cfDNA variants. This opens a perspective for an HCC screening strategy combining both liquid biopsy and MRI in patients with LC. |
| first_indexed | 2024-03-09T03:19:08Z |
| format | Article |
| id | doaj.art-a825a26cc0424a37b9a95804c0e3c279 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T03:19:08Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-a825a26cc0424a37b9a95804c0e3c2792023-12-03T15:13:46ZengMDPI AGCancers2072-66942021-01-0113352110.3390/cancers13030521Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver CirrhosisMarianna Alunni-Fabbroni0Sabine Weber1Osman Öcal2Max Seidensticker3Julia Mayerle4Peter Malfertheiner5Jens Ricke6Department of Radiology, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Medicine II, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Radiology, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Radiology, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Medicine II, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Radiology, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Radiology, University Hospital, LMU Munich, 81377 Munich, GermanyLiquid biopsy based on circulating cell-free DNA (cfDNA) is a promising non-invasive tool for the prognosis of hepatocellular cancer (HCC). In this exploratory study we investigated whether cfDNA and gene variants associated with HCC may be found in patients with liver cirrhosis (LC) and thus identify those at an increased risk for HCC. A cohort of 40 LC patients with no suspect neoplastic lesions was included in this study. Next generation sequencing (NGS) of cfDNA isolated from plasma was performed on a panel of 597 selected genes. Images of the patients who underwent MRI with hepatospecific contrast media during the study period were retrospectively re-evaluated (imaging was not part of the prospective study). cfDNA was detected in the plasma of 36 patients with LC. NGS-based analyses identified 20 variants in different combinations. Re-evaluation of the MRI images that were available for a proportion of the patients (<i>n</i> = 27) confirmed the absence of lesions in 8 cases carrying cfDNA without variants. In 6 of 19 patients with identified variants and MRI images available, MRI revealed a precursor lesion compatible with HCC and new lesions were discovered at follow-up in two patients. These precursor lesions were amenable for curative treatments. Mutation analysis revealed selective HCC related gene mutations in a subset of patients with LC, raising the suspect that these patients were at an increased risk for HCC development. MRI findings confirmed suspect nodular lesions of early stage HCC not detected with current standard screening procedures, which were only seen in patients carrying cfDNA variants. This opens a perspective for an HCC screening strategy combining both liquid biopsy and MRI in patients with LC.https://www.mdpi.com/2072-6694/13/3/521liver cirrhosisMRIHCCliquid biopsycirculating cell-free DNA |
| spellingShingle | Marianna Alunni-Fabbroni Sabine Weber Osman Öcal Max Seidensticker Julia Mayerle Peter Malfertheiner Jens Ricke Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis Cancers liver cirrhosis MRI HCC liquid biopsy circulating cell-free DNA |
| title | Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis |
| title_full | Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis |
| title_fullStr | Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis |
| title_full_unstemmed | Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis |
| title_short | Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis |
| title_sort | circulating cell free dna combined to magnetic resonance imaging for early detection of hcc in patients with liver cirrhosis |
| topic | liver cirrhosis MRI HCC liquid biopsy circulating cell-free DNA |
| url | https://www.mdpi.com/2072-6694/13/3/521 |
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