Báo cáo khoa học

Clinical validation of a ctDNA-based assay for multi-cancer detection: An interim report from a Vietnamese longitudinal prospective cohort study of 2,795 participants

Key findings: The SPOT_MAS assay ‘Screening for the Presence Of Tumor by Methylation And Size’ detects the five most common cancers in Vietnam by evaluating circulating tumor DNA in the blood. Here, we validated its performance in a prospective multi-center clinical trial, K-DETEK. Our analysis of 2,795 participants from 14 sites across Vietnam demonstrates its ability to detect cancers in asymptomatic individuals with a positive predictive value of 60%, with 83.3% accuracy in detecting tumor location. We present a case report to support further using SPOT-MAS as a complementary method to achieve early cancer detection and provide the opportunity for early treatment.

Được công bố tại:

Ngày đăng: 31/01/2023

Nghiên cứu ứng dụng cho xét nghiệm:

Multimodal analysis of genome-wide methylation, copy number aberrations, and end motif signatures enhances detection of early-stage breast cancer

Key findings: The article showed that a multimodal liquid biopsy assay based on analysis of cfDNA methylation, CNA and EM could enhance the accuracy for the detection of early- stage breast cancer. By identifying distinct profiles of genome-wide methylation changes (GWM), copy number alterations (CNA), and 4-nucleotide oligomer (4-mer) end motifs (EM) in cfDNA of breast cancer patients, combination model outperformed base models built from individual features, achieving an AUC of 0.91 (95% CI: 0.87-0.95), a sensitivity of 65% at 96% specificity.

Được công bố tại:

Ngày đăng: 08/05/2023

Nghiên cứu ứng dụng cho xét nghiệm:

Fragment length profiles of cancer mutations enhance detection of circulating tumor DNA in patients with early-stage hepatocellular carcinoma

Key findings: Our model achieved an area under the curve (AUC) of 0.88, a sensitivity of 89%, and a specificity of 82% in the discovery cohort consisting of 55 PwHCC and 55 healthy participants. In an independent validation cohort of 54 PwHCC and 53 healthy participants, the established model achieved comparable classification performance with an AUC of 0.86 and yielded a sensitivity and specificity of 81%.

Được công bố tại:

Ngày đăng: 13/03/2023

Nghiên cứu ứng dụng cho xét nghiệm:

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients

Key findings: Somatic mutations were determined in 96 out of 101 CRC patients. Two-thirds of the tumors harbored more than two mutations, and the most prevalent mutated genes were TP53 and APC. Among confirmed germline mutations, 10 pathogenic mutations and 11 variants of unknown significance were identified.

Được công bố tại:

Ngày đăng: 30/01/2022

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort

Key findings: 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients.

Được công bố tại:

Ngày đăng: 05/01/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients

Key findings: Somatic mutations were determined in 96 out of 101 CRC patients. Two-thirds of the tumors harbored more than two mutations, and the most prevalent mutated genes were TP53 and APC. Among confirmed germline mutations, 10 pathogenic mutations and 11 variants of unknown significance were identified.

Được công bố tại:

Ngày đăng: 30/01/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Multimodal analysis of ctDNA methylation and fragmentomic profiles enhances detection of nonmetastatic colorectal cancer.

Key findings: Introduce SPOT-MAS based on combining 4 ctDNA signatures for high accuracy in early detection of CRC
AUC: 0.989; SEN 96.8%; SPEC: 97%

Được công bố tại:

Ngày đăng: 16/12/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients

Key findings: Detect ctDNA in 90.5% of the pre-operative plasma samples, whereas carcinoembryonic antigen (CEA) was elevated in only 41.3% of them.

Được công bố tại:

Ngày đăng: 12/12/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Key findings: Asian cohorts show higher TP53 mutation frequency than in Caucasians. Alterations in PIK3CA and PI3K signaling were dominant.

Được công bố tại:

Ngày đăng: 10/12/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Development of a personalized liquid biopsy assay to detect minimal residual disease in multi-cancer

Key findings: Develop a personalized, tumor-informed assay to detect circulating tumor DNA (ctDNA) in liquid biopsy with high sensitivity and specificity using ultra-deep next-generation sequencing (NGS)

Được công bố tại:

Ngày đăng: 27/04/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Development of SPOT-MAS Technology for earlier multicancer detection

Key findings: Evaluate SPOT-MAS performance on detection of 4 common cancer types

AUC 0.93; SEN: 73.9%; SPEC 95.9%

Được công bố tại:

Ngày đăng: 27/04/2022

Nghiên cứu ứng dụng cho xét nghiệm:

Ultra-Deep Sequencing of Plasma-Circulating DNA for the Detection of Tumor- Derived Mutations in Patients with Nonmetastatic Colorectal Cancer

Key finding:

Evaluate plasma mutations as blomarkers for early detection of CRC:
SENS: 56%
SPEC: 98.95%

Được công bố tại:

Ngày đăng: 22/02/2021

Nghiên cứu ứng dụng cho xét nghiệm:

Liquid biopsy uncovers distinct patterns of DNA methylation and copy number changes in NSCLC patients with different EGFR-TKI resistant mutations

Key finding:

Explore methylation signatures of 122 NSCLC patients with TKI drug resistance

Được công bố tại:

Ngày đăng: 12/08/2021

Nghiên cứu ứng dụng cho xét nghiệm:

Ultra-Deep Massive Parallel Sequencing of Plasma Cell-Free DNA Enables Large-Scale Profiling of Driver Mutations in Vietnamese Patients With Advanced Non-Small Cell Lung Cancer

Key finding:

Identify the mutation profiles of 265 Vietnamese patients with advanced non-small cell lung cancer (NSCLC)

Được công bố tại:

Ngày đăng: 04/08/2020

Nghiên cứu ứng dụng cho xét nghiệm:

Actionable Mutation Profiles of non-Small cell Lung cancer patients from Vietnamese population

Key finding: Identify cancer actionable mutations of NSCLC using plasma cfDNA

Được công bố tại:

Ngày đăng: 17/02/2020

Nghiên cứu ứng dụng cho xét nghiệm:

Evaluation of a liquid biopsy protocal using ultra-deep massive parallel sequencing for detecting and quantifying circulation tumor DNA in colorectal cancer patients

The identification and quantification of actionable mutations are of critical importance for effective genotype-directed therapies, prognosis and drug response monitoring in patients with non-small-cell lung cancer (NSCLC)…

Được công bố tại:

Ngày đăng: 24/01/2020

Nghiên cứu ứng dụng cho xét nghiệm:

Ultra-deep massively parallel sequencing with unique molecular identifier tagging achieves comparable performance to droplet digital PCR for detection and quantification of circulating tumor DNA from lung cancer patients

Key finding: Present a novel method to detect cancer-specific mutation in blood samples of NSCLC patients

Được công bố tại:

Ngày đăng: 16/12/2019

Nghiên cứu ứng dụng cho xét nghiệm: