Tumor-specific genetic aberrations in cell-free DNA of gastroesophageal cancer patients

Koldby, Kristina Magaard; Mortensen, Michael Bau; Detlefsen, Sönke; Pfeiffer, Per; Thomassen, Mads; Kruse, Torben A.

doi:10.1007/s00535-018-1508-5

Cited by 16 publications

(7 citation statements)

References 88 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the process of cancer screening and early diagnosis, the combination of the quantitative level of ctDNA in circulation and the identification of ctDNA gene mutations can provide valuable information for cancer diagnosis. Existing studies indicate that gene mutations are tumor-specific and detection of mutations in local tumor tissues is often insufficient ( 17 , 18 ). Assessing these changes in ctDNA can provide greater diagnostic accuracy than standard protein biomarkers such as carcinoembryonic antigen (CEA) ( 19 , 20 ).…”

Section: Discussionmentioning

confidence: 99%

Comparative study on the mutation spectrum of tissue DNA and blood ctDNA in patients with non-small cell lung cancer

Zhang¹,

Wu²,

Wu³

et al. 2022

Transl Cancer Res TCR

View full text Add to dashboard Cite

Background To study the mutations detected in tissue DNA and blood circulating tumor DNA (ctDNA) of patients with advanced lung cancer and analyze the correlations between gene mutations, clinical features, and treatment. Methods Targeted next-generation sequencing (NGS) technology based on probe hybrid capture and Illumina high-throughput sequencing was used to detect the DNA of tumor tissue samples (n=24) and blood samples (n=15) of ctDNA from 28 lung cancer patients with a clear pathological diagnosis. For mutations, the detection range included 4 types of mutations (point mutations, small indels, copy number variations) in all exon regions and partial intron regions of the 556 genes panel. Results The most frequently detected mutant genes in 24 lung cancer tissue samples were TP53 (58.3%, 14/24), EGFR (33.3%, 8/24), LRP1B (25.0%, 6/24), KRAS (20.8%, 5/24), and ARID1A (16.7%, 4/24). The common mutant genes detected in 15 ctDNA samples were TP53 (60%, 5/15), EGFR (33.3%, 5/15), LRP1B (20.0%, 3/15), ERBB4 (3/15), and ARID1A (13.3%, 2/15). Among the 28 patients, 11 patients underwent both tissue DNA and ctDNA detection. The average co-mutation frequency of paired tissue DNA with ctDNA was 38.9% (0–83.3%), and the median value was 37.5%. Conclusions Tissue DNA and ctDNA samples could detect genetic mutations and be consistent. Therefore, ctDNA detection as a method for disease diagnosis and evaluation of tumor molecular status may be helpful for the clinical diagnosis and treatment of lung cancer patients.

show abstract

Section: Discussionmentioning

confidence: 99%

Comparative study on the mutation spectrum of tissue DNA and blood ctDNA in patients with non-small cell lung cancer

Zhang¹,

Wu²,

Wu³

et al. 2022

Transl Cancer Res TCR

View full text Add to dashboard Cite

show abstract

“…Circulating tumor DNA (ctDNA), known as tumor-derived cell-free DNA (cfDNA), can be detected in the acellular part of peripheral blood from cancer patients [1]. Since ctDNA contains tumor-specific mutations that represent tumor nature and status, studies on ctDNA have been conducted for various cancer types [2][3][4][5][6][7][8]. Likewise, the potential of ctDNA in colorectal cancer (CRC) as a minimally invasive biomarker has been highlighted in many recent studies for treatment response, prognosis prediction, minimum residual disease (MRD), and recurrence monitoring [9][10][11][12][13][14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Postoperative Circulating Tumor DNA Can Predict High Risk Patients with Colorectal Cancer Based on Next-Generation Sequencing

Lee

Kim

Schageman

et al. 2021

Cancers

View full text Add to dashboard Cite

The objective of this study was to characterize circulating tumor DNA (ctDNA) mutations in colorectal cancer (CRC) patients and evaluate their prognostic values during treatment. Forty-nine patients with CRC planned for operation were enrolled. A total of 115 plasma samples were collected pre-operation, post-operation, and post-chemotherapy. ctDNA analysis was performed using next-generation sequencing (NGS) including 14 genes. In 22 (44.9%) out of 49 patients, at least one mutation (40 total mutations) was detected in the initial plasma sample. The median sum of variant allele frequency was 0.74% (range: 0.10–29.57%). TP53 mutations were the most frequent (17 of 49 patients, 34.7%), followed by APC (18.4%), KRAS (12.2%), FBXW7 (8.2%), NRAS (2.0%), PIK3CA (2.0%), and SMAD4 (2.0%). After surgery, five (14.3%) out of 35 patients harbored ctDNA mutation. All five patients experienced relapse or metastasis during follow-up. It was noteworthy that all three patients with persistent ctDNA relapsed after R0 resection. After chemotherapy, ctDNA analysis was performed for 31 patients, all of which were ctDNA-negative. Analytical and clinical performances of NGS to utilize ctDNA in CRC were determined. Results revealed that postoperative ctDNA might serve as a marker for identifying risk of recurrence, thus contributing to patient-oriented treatment strategies.

show abstract

“…or targeted sequencing are used. Nowadays, novel high throughput sequencing techniques such as NGS or WES can identify mutations in multiple genetic regions ( 34 , 35 ). Thus, two platforms based on NGS have already been approved by the FDA for the analysis of genomic profile in cancer patients, by liquid biopsy.…”

Section: Circulating Tumor Dna (Ctdna)mentioning

confidence: 99%

Clinical Applications of Liquid Biopsy in Gastric Cancer

Chivu‐Economescu¹,

Necula²,

Matei³

et al. 2021

Front. Med.

View full text Add to dashboard Cite

Liquid biopsy represents an exciting new area in the field of cancer diagnosis and management, offering a less invasive and more convenient approach to obtain a time-point image of the tumor burden and its genomic profile. Samples collected from several body fluids, mostly blood, can be used to gain access to circulating tumor cells and DNA, non-coding RNAs, microRNAs, and exosomes, at any moment, offering a dynamic picture of the tumor. For patients with GC, the use of blood-based biopsies may be particularly beneficial since tissue biopsies are difficult to obtain and cause real distress to the patient. With advantages such as repeatability and minimal invasion, it is no wonder that the field of liquid biopsy has received tremendous attention. However, the abundance of studies, involving a wide range of assays with different principles, prevented for the moment the reproducibility of the results and therefore the translation into the clinic of liquid biopsy. In this review, we present the latest technical development and data on circulating biomarkers available through liquid biopsy in gastric cancer with an emphasis on their clinical utility in areas such as cancer screening, prognostic stratification, and therapeutic management.

show abstract

Tumor-specific genetic aberrations in cell-free DNA of gastroesophageal cancer patients

Cited by 16 publications

References 88 publications

Comparative study on the mutation spectrum of tissue DNA and blood ctDNA in patients with non-small cell lung cancer

Comparative study on the mutation spectrum of tissue DNA and blood ctDNA in patients with non-small cell lung cancer

Postoperative Circulating Tumor DNA Can Predict High Risk Patients with Colorectal Cancer Based on Next-Generation Sequencing

Clinical Applications of Liquid Biopsy in Gastric Cancer

Contact Info

Product

Resources

About