Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol
Background and purpose: Melanoma is one of the deadliest skin cancers and challenges clinicians worldwide due to rising incidence, potential aggressiveness, and propensity for metastasis, necessitating comprehensive follow-up programs after primary treatment. Circulating tumor DNA (ctDNA) is a prom...
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| Language: | English |
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Medical Journals Sweden
2025-02-01
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| Series: | Acta Oncologica |
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| Online Access: | https://medicaljournalssweden.se/actaoncologica/article/view/42515 |
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| author | Magnús P.B. Obinah Sarah A. Al-Halafi Karin Dreisig Tim S. Poulsen Christoffer Johansen Thomas Litman Stig E. Bojesen Estrid Høgdall Annette H. Chakera Lisbet R. Hölmich |
| author_facet | Magnús P.B. Obinah Sarah A. Al-Halafi Karin Dreisig Tim S. Poulsen Christoffer Johansen Thomas Litman Stig E. Bojesen Estrid Høgdall Annette H. Chakera Lisbet R. Hölmich |
| author_sort | Magnús P.B. Obinah |
| collection | DOAJ |
| description | Background and purpose: Melanoma is one of the deadliest skin cancers and challenges clinicians worldwide due to rising incidence, potential aggressiveness, and propensity for metastasis, necessitating comprehensive follow-up programs after primary treatment.
Circulating tumor DNA (ctDNA) is a promising biomarker that may indicate disease progression earlier than traditional surveillance methods, including 18F-FDG PET-CT, ultrasound, and clinical examination. This study examines ctDNA detection in blood as a minimally invasive method for early identification of progression following primary treatment of melanoma. The aim is to overcome the limitations of current methods, potentially improving prognosis and survival.
Patients/material and methods: Patients with high risk of recurrence following primary treatment of melanoma are offered inclusion. Blood sampling is performed at each follow-up visit. In case of recurrence, patient-specific mutations are identified through next-generation sequencing (NGS) of formalin and paraffin embedded tissue from diagnostic routine. Detection of mutation-specific ctDNA is performed on blood using digital droplet polymerase chain reaction (ddPCR) or NGS. This allows determination of the value and sensitivity of ctDNA for early detection of recurrence.
Results and Interpretation: For validation purposes, we conducted a small pilot study using blood samples from 10 patients who had experienced recurrence and had a clinically confirmed BRAF V600E mutation. Detection of BRAF V600E ctDNA using ddPCR varied from 0/5 (0%) in DNA harvested from 4 mL plasma, to 3/5 (60%) in DNA from 8 mL of plasma. These results show promise and highlight the importance of high sensitivity and sampling volumes to ensure accurate detection of low levels of ctDNA.
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| format | Article |
| id | doaj-art-f122e6378d764b779e17b3aee48a4edb |
| institution | Kabale University |
| issn | 1651-226X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Medical Journals Sweden |
| record_format | Article |
| series | Acta Oncologica |
| spelling | doaj-art-f122e6378d764b779e17b3aee48a4edb2025-02-11T06:45:25ZengMedical Journals SwedenActa Oncologica1651-226X2025-02-016410.2340/1651-226X.2025.42515Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocolMagnús P.B. Obinah0https://orcid.org/0000-0002-4817-9834Sarah A. Al-Halafi1Karin Dreisig2Tim S. Poulsen3https://orcid.org/0000-0001-9781-0541Christoffer Johansen4https://orcid.org/0000-0002-4384-206XThomas Litman5https://orcid.org/0000-0002-6068-901XStig E. Bojesen6https://orcid.org/0000-0002-4061-4133Estrid Høgdall7https://orcid.org/0000-0003-4689-5658Annette H. Chakera8https://orcid.org/0000-0002-3859-0814Lisbet R. Hölmich9https://orcid.org/0000-0002-1983-5222Dept. of Plastic Surgery, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen DenmarkDept. of Plastic Surgery, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen DenmarkDept. of Clinical Biochemistry, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen DenmarkMolecular Unit, Dept. of Pathology, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen DenmarkCenter for Cancer Late Effect Research CASTLE, Dept. of Oncology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, DenmarkDept. of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkDept. of Clinical Biochemistry, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen Denmark; Dept. of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkMolecular Unit, Dept. of Pathology, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen Denmark; Dept. of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkAgata Private Hospital, Copenhagen, DenmarkDept. of Plastic Surgery, Copenhagen University Hospital – Herlev and Gentofte, Copenhagen Denmark; Dept. of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkBackground and purpose: Melanoma is one of the deadliest skin cancers and challenges clinicians worldwide due to rising incidence, potential aggressiveness, and propensity for metastasis, necessitating comprehensive follow-up programs after primary treatment. Circulating tumor DNA (ctDNA) is a promising biomarker that may indicate disease progression earlier than traditional surveillance methods, including 18F-FDG PET-CT, ultrasound, and clinical examination. This study examines ctDNA detection in blood as a minimally invasive method for early identification of progression following primary treatment of melanoma. The aim is to overcome the limitations of current methods, potentially improving prognosis and survival. Patients/material and methods: Patients with high risk of recurrence following primary treatment of melanoma are offered inclusion. Blood sampling is performed at each follow-up visit. In case of recurrence, patient-specific mutations are identified through next-generation sequencing (NGS) of formalin and paraffin embedded tissue from diagnostic routine. Detection of mutation-specific ctDNA is performed on blood using digital droplet polymerase chain reaction (ddPCR) or NGS. This allows determination of the value and sensitivity of ctDNA for early detection of recurrence. Results and Interpretation: For validation purposes, we conducted a small pilot study using blood samples from 10 patients who had experienced recurrence and had a clinically confirmed BRAF V600E mutation. Detection of BRAF V600E ctDNA using ddPCR varied from 0/5 (0%) in DNA harvested from 4 mL plasma, to 3/5 (60%) in DNA from 8 mL of plasma. These results show promise and highlight the importance of high sensitivity and sampling volumes to ensure accurate detection of low levels of ctDNA. https://medicaljournalssweden.se/actaoncologica/article/view/42515Biomarkerliquid biopsyskinmolecular analysisActionable Mutations |
| spellingShingle | Magnús P.B. Obinah Sarah A. Al-Halafi Karin Dreisig Tim S. Poulsen Christoffer Johansen Thomas Litman Stig E. Bojesen Estrid Høgdall Annette H. Chakera Lisbet R. Hölmich Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol Acta Oncologica Biomarker liquid biopsy skin molecular analysis Actionable Mutations |
| title | Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol |
| title_full | Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol |
| title_fullStr | Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol |
| title_full_unstemmed | Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol |
| title_short | Circulating tumor DNA for surveillance in high-risk melanoma patients: a study protocol |
| title_sort | circulating tumor dna for surveillance in high risk melanoma patients a study protocol |
| topic | Biomarker liquid biopsy skin molecular analysis Actionable Mutations |
| url | https://medicaljournalssweden.se/actaoncologica/article/view/42515 |
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