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Joch, S; Smolle, MA; Kashofer, K; Thüringer, A; Szkandera, J; Benesch, M; El-Heliebi, A; Liegl-Atzwanger, B; Leithner, A; Seidel, MG.
New Insights from Long-Term Clinical Use of Circulating Tumor DNA-Based Minimal Residual Disease Monitoring in Translocation-Associated Sarcomas.
Oncol Res Treat. 2025; 48(4):186-196
Doi: 10.1159/000543223
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- Führende Autor*innen der Med Uni Graz
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Kashofer Karl
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Smolle Maria Anna
- Co-Autor*innen der Med Uni Graz
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Benesch Martin
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El-Heliebi Amin
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Leithner Andreas
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Liegl-Atzwanger Bernadette
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Seidel Markus
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Szkandera Joanna
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Thüringer Andrea
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- Abstract:
- INTRODUCTION: Assessment of circulating tumor DNA (ctDNA) as a means to monitor disease activity in translocation-associated tumors has become very popular in clinical practice. However, there are still few studies on its clinical application to date. Our study evaluates the clinical applicability of ctDNA as a biomarker for monitoring minimal residual disease (MRD) in patients with translocation-associated sarcomas. METHODS: In this retrospective study, we correlated 285 ctDNA samples from 34 patients diagnosed with translocation-associated sarcoma with the clinical course and images. Blood samples were collected at multiple time points during follow-up (median: 97 weeks, range: 7-398). RESULTS: We discovered a significant association between ctDNA levels and the clinical course of the disease, particularly noting differences between patients in remission or with progressive disease (p = 0.001). Furthermore, although we noted that ctDNA levels remained undetectable in a few cases of unilocular recurrence (n = 3), they were consistently higher in patients with multilocular recurrence (n = 14; p = 0.008). CONCLUSION: Monitoring ctDNA levels provides highly specific, additional information enabling early recurrence detection in patients with translocation-associated sarcomas during the follow-up and can be integrated into clinical practice. However, MRD monitoring by ctDNA quantification alone does not allow the reliable detection of 100% of unilocular recurrences and should be complemented by the use of conventional imaging techniques. INTRODUCTION: Assessment of circulating tumor DNA (ctDNA) as a means to monitor disease activity in translocation-associated tumors has become very popular in clinical practice. However, there are still few studies on its clinical application to date. Our study evaluates the clinical applicability of ctDNA as a biomarker for monitoring minimal residual disease (MRD) in patients with translocation-associated sarcomas. METHODS: In this retrospective study, we correlated 285 ctDNA samples from 34 patients diagnosed with translocation-associated sarcoma with the clinical course and images. Blood samples were collected at multiple time points during follow-up (median: 97 weeks, range: 7-398). RESULTS: We discovered a significant association between ctDNA levels and the clinical course of the disease, particularly noting differences between patients in remission or with progressive disease (p = 0.001). Furthermore, although we noted that ctDNA levels remained undetectable in a few cases of unilocular recurrence (n = 3), they were consistently higher in patients with multilocular recurrence (n = 14; p = 0.008). CONCLUSION: Monitoring ctDNA levels provides highly specific, additional information enabling early recurrence detection in patients with translocation-associated sarcomas during the follow-up and can be integrated into clinical practice. However, MRD monitoring by ctDNA quantification alone does not allow the reliable detection of 100% of unilocular recurrences and should be complemented by the use of conventional imaging techniques.
- Find related publications in this database (using NLM MeSH Indexing)
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Humans - administration & dosage
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Neoplasm, Residual - genetics, blood, diagnosis
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Circulating Tumor DNA - blood, genetics
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Sarcoma - genetics, blood, pathology, diagnosis, therapy
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Male - administration & dosage
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Female - administration & dosage
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Adult - administration & dosage
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Retrospective Studies - administration & dosage
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Translocation, Genetic - administration & dosage
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Biomarkers, Tumor - blood, genetics
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Middle Aged - administration & dosage
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Neoplasm Recurrence, Local - genetics, blood
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Young Adult - administration & dosage
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Adolescent - administration & dosage
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Aged - administration & dosage
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Child - administration & dosage
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Follow-Up Studies - administration & dosage
- Find related publications in this database (Keywords)
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Liquid biopsy
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Translocation-associated sarcomas
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Cell-free circulating tumor DNA
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Minimal residual disease monitoring