ArticleJournal of gastroenterology2020
Digital PCR-based plasma cell-free DNA mutation analysis for early-stage pancreatic tumor diagnosis and surveillance.
Article in Journal of gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Simultaneous quantitative detection of multiple low-frequency variants by high-dynamic-range capillary electrophoresis.Molecular therapy. Nucleic acids · 2026Article
- Urine Cell-Free DNA in the Diagnosis of Intraductal Papillary Mucinous Neoplasms: A Prospective Observational Study.Annals of surgical oncology · 2026Article
- Liquid Biopsy Frontiers in Pancreatic Cancer: Insights from Circulating Cell-Free Nucleic Acids.Cells · 2026Review
- Recent Advances in Non-Invasive Blood Markers for Intraductal Papillary Mucinous Neoplasm Grading.Oncology research · 2026Review
- Early neoplastic lesions of the pancreas: initiation, progression, and opportunities for precancer interception.The Journal of clinical investigation · 2025Review
- High dynamic range capillary electrophoresis method for sensitive detection of low-frequency driver mutations.Scientific reports · 2025Article
- KRAS and GNAS mutations in cell-free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms-an observational pilot study.Molecular oncology · 2025Observational
- Advances in cfDNA research for pregnancy-related diseases.Frontiers in cell and developmental biology · 2025Review
- Roles of MT-ND1 in Cancer.Current medical science · 2023Review
- Current status of molecular diagnostic approaches using liquid biopsy.Journal of gastroenterology · 2023Review
- A Digital PCR Method Based on Highly Specific Taq for Detecting Gene Editing and Mutations.International journal of molecular sciences · 2023Article
- Evolving utility of exosomes in pancreatic cancer management.World journal of methodology · 2023Review
- Circulating Cell-Free Nucleic Acids as Biomarkers for Diagnosis and Prognosis of Pancreatic Cancer.Biomedicines · 2023Review
- Current Status of the Diagnosis of Early-Stage Pancreatic Ductal Adenocarcinoma.Diagnostics (Basel, Switzerland) · 2023Review
- Liquid biopsy leads to a paradigm shift in the treatment of pancreatic cancer.World journal of gastroenterology · 2022Review
- Carbohydrate antigen 125 supplements carbohydrate antigen 19-9 for the prediction of invasive intraductal papillary mucinous neoplasms of the pancreas.World journal of surgical oncology · 2022Article
- KRAS variant allele frequency, but not mutation positivity, associates with survival of patients with pancreatic cancer.Cancer science · 2022Article
- Biomarkers in the diagnosis of pancreatic cancer: Are we closer to finding the golden ticket?World journal of gastroenterology · 2021Review
- Meta-Analysis of Circulating Cell-Free DNA's Role in the Prognosis of Pancreatic Cancer.Cancers · 2021Review
- Liquid Biopsy in Pancreatic Cancer: Are We Ready to Apply It in the Clinical Practice?Cancers · 2021Review
Corrections and comments
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Authors and funding
29 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundCell-free DNA (cfDNA) shed from tumors into the circulation offers a tool for cancer detection. Here, we evaluated the feasibility of cfDNA measurement and utility of digital PCR (dPCR)-based assays, which reduce subsampling error, for diagnosing pancreatic ductal adenocarcinoma (PDA) and surveillance of intraductal papillary mucinous neoplasm (IPMN).
methodsWe collected plasma from seven institutions for cfDNA measurements. Hot-spot mutations in KRAS and GNAS in the cfDNA from patients with PDA (n = 96), undergoing surveillance for IPMN (n = 112), and normal controls (n = 76) were evaluated using pre-amplification dPCR.
resultsUpon Qubit measurement and copy number assessment of hemoglobin-subunit (HBB) and mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 (MT-ND1) in plasma cfDNA, HBB offered the best resolution between patients with PDA relative to healthy subjects [area under the curve (AUC) 0.862], whereas MT-ND1 revealed significant differences between IPMN and controls (AUC 0.851). DPCR utilizing pre-amplification cfDNA afforded accurate tumor-derived mutant KRAS detection in plasma in resectable PDA (AUC 0.861-0.876) and improved post-resection recurrence prediction [hazard ratio (HR) 3.179, 95% confidence interval (CI) 1.025-9.859] over that for the marker CA19-9 (HR 1.464; 95% CI 0.674-3.181). Capturing KRAS and GNAS could also provide genetic evidence in patients with IPMN-associated PDA and undergoing pancreatic surveillance.
conclusionsPlasma cfDNA quantification by distinct measurements is useful to predict tumor burden. Through appropriate methods, dPCR-mediated mutation detection in patients with localized PDA and IPMN likely to progress to invasive carcinoma is feasible and complements conventional biomarkers.
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