25 February 2022>: Review Articles
A Review of Circulating Tumor DNA in the Diagnosis and Monitoring of Esophageal Cancer
Min Jiang 1EF , Huilin Zhou 1F , Su Jiang 2F , Hong Yu 1AEG*DOI: 10.12659/MSM.934106
Med Sci Monit 2022; 28:e934106
Background
ctDNA
Approaches for ctDNA Detection
ctDNA Assay Provides Opportunity for Esophageal Cancer
Early Screening and Diagnosis
Monitoring Treatment Response and Recurrence
Current Status of ctDNA Testing in Diagnosis and Monitoring Esophageal Cancer
Challenges for ctDNA Assay
Conclusions
References
Table 1 Summary of studies involving circulating tumor DNA (ctDNA) and esophageal cancer.
Studies | Methods | No. of patients | No. of sample | Sample types | Purpose |
---|---|---|---|---|---|
[]72 | NGS | 45 | 213 | Tissues and plasma | Detection of minimal residual disease |
[]18 | NGS | 21 | 21 | Plasma | Diagnosis |
[]64 | NGS | 30 | 30 | Tissues and plasma | Predicting treatment outcomes |
[106] | NGS | 56 | 56 | Tissues and plasma | Determining the feasibility of ctDNA assay in advanced gastrointestinal and anal cancers |
[107] | NGS | 8 | 8 | Plasma | Determining the feasibility of ctDNA assay in advanced gastrointestinal cancers |
[]88 | qPCR | 41 | 75 | Plasma | Diagnosis and surveillance |
[]61 | NGS | 35 | 116 | Tissues and plasma | Surveillance |
[]62 | NGS, ddPCR | 42 | 121 | Tissues and plasma | Predicting response to chemotherapy |
[108] | DNA quantification | 57 | 143 | Plasma | Monitoring of treatment responses and relapse in advanced ESCC |
[]66 | NGS | 85 | 449 | Tissues and plasma | Diagnosis |
[]85 | NGS | 20 | >60 | Tissues and plasma | Surveillance |
[]58 | NGS | 5 | 52 | Tissues and plasma | Analyzing the concordance of somatic variants in ESCC tissues and ctDNA |
[]56 | NGS, Array-CGH | 44 | 88 | Tissues and plasma | Analyzing the concordance of copy number alterations in gastroesophageal cancer tissues and ctDNA |
[109] | NGS | 71 | 6689 | Plasma | Diagnosis |
[]67 | NGS | 100 | 4077 | Plasma | Diagnosis |
[]34 | NGS | 3 | 20 | Tissues and plasma | Predicting response to neoadjuvant therapy |
[]71 | NGS, ddPCR | 35 | 604 | Tissues and plasma | Monitoring clinical outcome during the treatment course of ESCC patients |
[]46 | NGS | 97 | 245 | Plasma | Surveillance |
[]86 | NGS | 25 | 69 | Plasma | Monitoring the prognosis of ESCC patients receiving radiotherapy |
[]82 | NGS | 150 | 227 | Plasma | Diagnosis |
[]57 | NGS | 42 | 81 | Tissues and plasma | Analyzing the concordance of TP53 mutations in ESCC tissues and ctDNA |
[110] | NGS, ddPCR | 27 | >52 | Tissues and plasma | Determining the feasibility of ctDNA assay in esophageal cancer |
[]73 | LOH analysis | 40 | 40 | Plasma | Monitoring the neoplastic progression of Barrett’s esophagus |
[]65 | NGS | 61 | 139 | Plasma | Predicting treatment outcomes |
[]83 | NGS | 11 | 55 | Tissues and plasma | Determining the feasibility of ctDNA assay in esophageal cancer |
[]60 | NGS | 13 | 46 | Tissues and plasma | Predicting recurrence |
[]59 | NGS | 1630 | 2140 | Tissues and plasma | Evaluate the role of ctDNA in guiding clinical decision-making in gastroesophageal adenocarcinoma |
[]45 | NGS, ddPCR | 1 | 14 | Tissues and plasma | False-positive plasma genotyping |
[]87 | qPCR | 63 | 115 | Tissues and plasma | Predicting recurrence |
cfDNA – cell-free DNA; ctDNA – circulating tumor DNA; ddPCR – droplet digital polymerase chain reaction; ESCC – esophageal squamous cell carcinoma; LOH – loss of heterozygosity; qPCR – real-time fluorescence quantitative PCR; TP53 – tumor protein p53. |