Circulating tumor DNA in biliary tract cancers: A review of current applications

Table 1 Studies evaluating circulating tumor DNA for early detection

Ref.	Title	Clinical relevance
Phallen et al[46], 2017	Direct detection of early-stage cancers using circulating tumor DNA	Investigates ctDNA levels in patients with early-stage solid tumors; higher levels are associated with recurrence and worse overall survival
Liu et al[37], 2024	Cell-free DNA in plasma reveals genomic similarity between biliary tract inflammatory lesion and biliary tract cancer	Compares molecular profiles of biliary tract cancer and inflammatory bile diseases to aid differential diagnosis
Mencel et al[40], 2022	Liquid biopsy for diagnosis in patients with suspected pancreatic and biliary tract cancers: PREVAIL ctDNA pilot trial	Evaluates the utility of ctDNA in confirming cancer diagnosis in patients with radiologically suspected pancreatic or biliary malignancies
Yang et al[45], 2023	Multimodal integration of liquid biopsy and radiology for the noninvasive diagnosis of gallbladder cancer and benign disorders	Develops a ctDNA-based tool for the preoperative diagnosis of gallbladder cancer, supporting surgical decision-making
He et al[49], 2025	Bile-derived cfDNA of syncytin-1 and SLC7A11 as a potential molecular marker for early diagnosis of cholangiocarcinoma	Explores the role of syncytin-1 and SLC7A11 expression in cholangiocarcinoma pathogenesis
Konczalla et al[39], 2020	Clinical significance of circulating tumor cells in gastrointestinal carcinomas	Reviews the potential of CTCs for cancer screening and patient stratification
Mishra et al[24], 2024	Diagnostic utility of next-generation sequencing in circulating free DNA and a comparison with matched tissue in gallbladder carcinoma	Analyzes genomic alterations in cfDNA from gallbladder cancer to improve diagnostic precision and inform therapeutic strategies

cfDNA: Cell free DNA; CTC: Circulating tumor cells; ctDNA: Circulating tumor DNA; SLC7A11: Solute carrier family 7 member 11.