A Review of Circulating Tumor DNA in the Diagnosis and Monitoring of Esophageal Cancer

Jiang Min; Huilin Zhou; Su Jiang; Hong Yu

doi:10.12659/MSM.934106

25 February 2022 : Review article

A Review of Circulating Tumor DNA in the Diagnosis and Monitoring of Esophageal Cancer

Jiang Min^1EF, Huilin Zhou^1F, Su Jiang^2F, Hong Yu^1AEG*

DOI: 10.12659/MSM.934106

Med Sci Monit 2022; 28:e934106

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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

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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.

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A Review of Circulating Tumor DNA in the Diagnosis and Monitoring of Esophageal Cancer

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