Circulating Tumor DNA and Tissue Testing for Pancreatobiliary Tumors

作者：Himil Mahadevia, Umair Majeed, Jaydeepbhai Patel, Ahmed Ahmed, Ahmed Elhariri, Douaa Albelal, Nakka Naga Malleswara Rao, Hari Krishnareddy Rachamala, Osama Mosalem, Debabrata Mukhopadhyay, Jeremy Jones, Daruka Mahadevan, Mitesh J. Borad, Daniel H. Ahn, Mohamad Bassam Sonbol, Nguyen H. Tran, Amit Mahipal, Wen Wee, Robert R. McWilliams, Thor R Halfdanarson, Lionel Aurelien Kankeu Fonkoua, Tanios Bekaii-Saab, Kabir Mody, Hani Babiker · 发表于：JAMA Network Open · 年份：2025 · DOI：10.1001/jamanetworkopen.2025.31373 · 被引用次数：6 · 研究领域：Cancer Genomics and Diagnostics、Pancreatic and Hepatic Oncology Research、Cholangiocarcinoma and Gallbladder Cancer Studies

Importance: The prognosis of advanced pancreaticobiliary tumors is poor. Next-generation sequencing (NGS) of tissue samples is utilized to identify actionable alterations, but there are occasional limitations due to inadequate tissue acquisition. Circulating tumor DNA (ctDNA) is an alternative method, but its correlation with tissue-based NGS remains unexplored. Objectives: To assess the mutation concordance (mCR) rates between ctDNA and tissue testing for patients with pancreatic ductal adenocarcinoma (PDAC) and cholangiocarcinoma (CC) and to evaluate how ctDNA performs as a treatment response biomarker. Design, Setting, and Participants: This retrospective cohort study was conducted among patients with PDAC and CC treated at academic institutions from January 2014 to January 2025. Patients underwent ctDNA testing using 1 platform and tissue NGS testing using 2 platforms. Main Outcomes and Measures: mCR, which measures the shared gene alterations observed by both ctDNA and tissue-based NGS testing, was calculated using the Spearman correlation for PDAC and CC. The performance of ctDNA as a treatment response biomarker was assessed by comparing serial ctDNA data with restaging scans and cancer antigen 19-9 levels in patients with PDAC. Results: Our cohort included 790 patients: 570 with advanced PDAC (265 [46.5%] female; median [IQR] age, 64 [33-84] years) and 220 with advanced CC (95 [43.2%] female; median [IQR] age, 66 [42-88] years). Overall, 461 patients with PDAC (80.9%)...