دورية أكاديمية
أعرض في EDS

Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.

التفاصيل البيبلوغرافية
العنوان: Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.
المؤلفون: de Bruyn DP; Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands., van Poppelen NM; Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands., Brands T; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van den Boom SC; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Eikenboom E; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Beverloo B; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Rij CM; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands.; Department of Radiation Oncology, Erasmus MC, Rotterdam, The Netherlands., Verdijk RM; Department of Pathology, Section Ophthalmic Pathology, Erasmus MC, Rotterdam, The Netherlands.; Department of Pathology, LUMC, Leiden, The Netherlands., Naus NC; Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Bagger MM; Department of Ophthalmology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, Copenhagen University, Copenhagen, Denmark., Kiilgaard JF; Department of Ophthalmology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark., de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands., Brosens E; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands., Kiliç E; Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.; Erasmus MC Cancer Institute, Erasmus MC, Rotterdam, The Netherlands.
المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Feb 01; Vol. 65 (2), pp. 11.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
أسماء مطبوعة: Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo)
Original Publication: St. Louis, Mosby.
مواضيع طبية MeSH: Circulating Tumor DNA*/genetics , Melanoma* , Uveal Neoplasms*, Humans ; DNA Copy Number Variations ; Pilot Projects ; Biomarkers
مستخلص: Purpose: Uveal melanoma (UM) has a high propensity to metastasize. Prognosis is associated with specific driver mutations and copy number variations (CNVs), but limited primary tumor tissue is available for molecular characterization due to eye-sparing irradiation treatment. This study aimed to assess the rise in circulating tumor DNA (ctDNA) levels in UM and evaluate its efficacy for CNV-profiling of patients with UM.
Methods: In a pilot study, we assessed ctDNA levels in the blood of patients with UM (n = 18) at various time points, including the time of diagnosis (n = 13), during fractionated stereotactic radiotherapy (fSRT) treatment (n = 6), and upon detection of metastatic disease (n = 13). Shallow whole-genome sequencing (sWGS) combined with in silico size-selection was used to identify prognostically relevant CNVs in patients with UM (n = 26) from peripheral blood retrieved at the time of diagnosis (n = 9), during fSRT (n = 5), during post-treatment follow-up (n = 4), metastasis detection (n = 6), and metastasis follow-up (n = 4).
Results: A total of 34 patients had blood analyzed for ctDNA detection (n = 18) and/or CNV analysis (n = 26) at various time points. At the time of diagnosis, 5 of 13 patients (38%) had detectable ctDNA (median = 0 copies/mL). Upon detection of metastatic disease, ctDNA was detected in 10 of 13 patients (77%) and showed increased ctDNA levels (median = 24 copies/mL, P < 0.01). Among the six patients analyzed during fSRT, three (50%) patients had detectable ctDNA at baseline and three of six (50%) patients had undetectable levels of ctDNA. During the fSRT regimen, ctDNA levels remained unchanged (P > 0.05). The ctDNA fractions were undetectable to low in localized disease, and sWGS did not elucidate chromosome 3 status from blood samples. However, in 7 of 10 (70%) patients with metastases, the detection of chromosome 3 loss corresponded to the high metastatic-risk class.
Conclusions: The rise in ctDNA levels observed in patients with UM harboring metastases suggests its potential utility for CNV profiling. These findings highlight the potential of using ctDNA for metastasis detection and patient inclusion in therapeutic studies targeting metastatic UM.
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المشرفين على المادة: 0 (Circulating Tumor DNA)
0 (Biomarkers)
SCR Disease Name: Uveal melanoma
تواريخ الأحداث: Date Created: 20240206 Date Completed: 20240207 Latest Revision: 20240211
رمز التحديث: 20240211
مُعرف محوري في PubMed: PMC10854420
DOI: 10.1167/iovs.65.2.11
PMID: 38319670
قاعدة البيانات: MEDLINE
الوصف
تدمد:1552-5783
DOI:10.1167/iovs.65.2.11