Rajat Thawani , Ajay Mohinani , Mason McLellan , Nima Nabavizadeh , Sean Goodyear , Adel Kardosh
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引用次数: 0
摘要
原发灶不明的癌症（CUP）是一种恶性肿瘤，尽管进行了适当的诊断工作，但临床上仍无法确定其原发部位。CUP 的预后较差，中位总生存期为 4-9 个月。迄今为止，利用无细胞 DNA（cfDNA）描述疾病部位特异性甲基化特征的方法还很有限。我们报告了俄勒冈健康与科学大学（OHSU）五名 CUP 患者的系列病例，这些患者参加了一项利用多癌早期检测（MCED）试验（使用 cfDNA 检测原发性恶性肿瘤）的研究。我们的病例系列观察结果表明，应该进一步探讨 cfDNA 在 CUP 患者中的应用，而且需要进行大规模的前瞻性试验。
Plasma cfDNA in Carcinoma of unknown primary: A case series
Carcinoma of unknown primary (CUP) is a malignancy without a clinically identified site of primary occurrence despite an appropriate diagnostic workup. CUP portends a poor prognosis with median overall survival ranging between 4–9 months. The utilization of cell-free DNA (cfDNA) for characterizing disease-site specific methylation signatures has, to date, been limited. We report a series with five participants with CUP from the Oregon Health and Science University (OHSU) who were enrolled in a study utilizing a multi-cancer early detection (MCED) test using cfDNA to detect the primary malignancy. The observations from our case series suggest that the utility of cfDNA should be further explored in patients with CUP, and a large prospective trial is needed.
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