Liquid biopsy - a review
Introduction and objective: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide. Early detection is crucial for better outcomes. Traditional diagnostic methods, such as imaging and biopsies, often fail to detect HCC in early stages. Liquid biopsy, based on circulati...
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2025-01-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/56584 |
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| author | WERONIKA RUTKOWSKA-KAWALEC Karolina Michalczuk Dariusz Fabian Marek Kurowski Elżbieta Leszczyńska-Knaga Natalia Jakubczyk Paweł Moczydłowski Monika Ryglewicz Anna Gliwa Karolina Kuczapska |
| author_facet | WERONIKA RUTKOWSKA-KAWALEC Karolina Michalczuk Dariusz Fabian Marek Kurowski Elżbieta Leszczyńska-Knaga Natalia Jakubczyk Paweł Moczydłowski Monika Ryglewicz Anna Gliwa Karolina Kuczapska |
| author_sort | WERONIKA RUTKOWSKA-KAWALEC |
| collection | DOAJ |
| description |
Introduction and objective:
Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide. Early detection is crucial for better outcomes. Traditional diagnostic methods, such as imaging and biopsies, often fail to detect HCC in early stages. Liquid biopsy, based on circulating free DNA (cfDNA) analysis, offers a promising, non-invasive approach, allowing frequent testing, addressing tumor heterogeneity, and reducing costs.
Review methods:
This article's databases were accessed through the WHO website, PubMed, and Google Scholar.
A brief description of the state of knowledge:
Early detection of HCC significantly improves survival. Biomarkers from cfDNA, including DNA fragment patterns, methylation markers (e.g., USP44), 5-hydroxymethylcytosine (5hmC), and digital PCR analysis, have shown potential in early-stage detection. Advanced cfDNA fragmentomics identifies tumor-specific DNA fragmentation patterns. Techniques like DELFI demonstrate high sensitivity (94%) and specificity (98%). Machine learning enhances cfDNA analysis by integrating multiple markers, improving accuracy in distinguishing cancerous from precancerous states. Combining methylation analysis with machine learning further addresses challenges of tumor heterogeneity.
Summary:
Studies highlight the high sensitivity and specificity of cfDNA biomarkers for HCC diagnosis, especially in high-risk groups like individuals with cirrhosis. Integrating technologies like 5hmC analysis and machine learning enables early diagnosis and treatment monitoring. These advancements represent a transformative step in cancer diagnostics, offering effective tools to improve patient outcomes.
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| format | Article |
| id | doaj-art-6f1ae283199943e08bb578b987fd0829 |
| institution | Kabale University |
| issn | 2391-8306 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-6f1ae283199943e08bb578b987fd08292025-01-07T08:16:39ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062025-01-017710.12775/JEHS.2025.77.56584Liquid biopsy - a reviewWERONIKA RUTKOWSKA-KAWALEC0https://orcid.org/0009-0002-4283-6458Karolina Michalczuk1https://orcid.org/0000-0002-4427-9133Dariusz Fabian2https://orcid.org/0009-0006-7241-7245Marek Kurowski3https://orcid.org/0009-0008-2831-3312Elżbieta Leszczyńska-Knaga4https://orcid.org/0009-0007-5584-8614Natalia Jakubczyk5https://orcid.org/0009-0008-3190-4658Paweł Moczydłowski6https://orcid.org/0009-0007-1555-2958Monika Ryglewicz7https://orcid.org/0009-0006-1063-2265Anna Gliwa8https://orcid.org/0009-0006-0251-0591Karolina Kuczapskahttps://orcid.org/0000-0002-5921-1094Tytus Chałubiński Regional Hospital in ZakopaneV Wojskowy Szpital Kliniczny z Polikliniką w KrakowieSpecjalistyczny Szpital Wojewódzki w CiechanowieSzpital MSWiA w ŁodziWojewódzki Szpital Specjalistyczny MEGREZ w TychachSzpital MSWiA w ŁodziSzpital Miejski Specjalistyczny im. G. Narutowicza w KrakowieSzpital Bielański WarszawaUniwersytecki Szpital Kliniczny we Wrocławiu Introduction and objective: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide. Early detection is crucial for better outcomes. Traditional diagnostic methods, such as imaging and biopsies, often fail to detect HCC in early stages. Liquid biopsy, based on circulating free DNA (cfDNA) analysis, offers a promising, non-invasive approach, allowing frequent testing, addressing tumor heterogeneity, and reducing costs. Review methods: This article's databases were accessed through the WHO website, PubMed, and Google Scholar. A brief description of the state of knowledge: Early detection of HCC significantly improves survival. Biomarkers from cfDNA, including DNA fragment patterns, methylation markers (e.g., USP44), 5-hydroxymethylcytosine (5hmC), and digital PCR analysis, have shown potential in early-stage detection. Advanced cfDNA fragmentomics identifies tumor-specific DNA fragmentation patterns. Techniques like DELFI demonstrate high sensitivity (94%) and specificity (98%). Machine learning enhances cfDNA analysis by integrating multiple markers, improving accuracy in distinguishing cancerous from precancerous states. Combining methylation analysis with machine learning further addresses challenges of tumor heterogeneity. Summary: Studies highlight the high sensitivity and specificity of cfDNA biomarkers for HCC diagnosis, especially in high-risk groups like individuals with cirrhosis. Integrating technologies like 5hmC analysis and machine learning enables early diagnosis and treatment monitoring. These advancements represent a transformative step in cancer diagnostics, offering effective tools to improve patient outcomes. https://apcz.umk.pl/JEHS/article/view/56584Hepatocellular carcinomaearly-stage HCCliquid biopsydiagnosis |
| spellingShingle | WERONIKA RUTKOWSKA-KAWALEC Karolina Michalczuk Dariusz Fabian Marek Kurowski Elżbieta Leszczyńska-Knaga Natalia Jakubczyk Paweł Moczydłowski Monika Ryglewicz Anna Gliwa Karolina Kuczapska Liquid biopsy - a review Journal of Education, Health and Sport Hepatocellular carcinoma early-stage HCC liquid biopsy diagnosis |
| title | Liquid biopsy - a review |
| title_full | Liquid biopsy - a review |
| title_fullStr | Liquid biopsy - a review |
| title_full_unstemmed | Liquid biopsy - a review |
| title_short | Liquid biopsy - a review |
| title_sort | liquid biopsy a review |
| topic | Hepatocellular carcinoma early-stage HCC liquid biopsy diagnosis |
| url | https://apcz.umk.pl/JEHS/article/view/56584 |
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