Publication Category: Oncology Publications

A streamlined hybrid-capture and genome-wide multi-omic platform for highly sensitive ctDNA minimal residual disease monitoring

In this study, we validated a new hybrid capture-based sequencing (HYB) workflow, a versatile approach that enables both tumor-informed and tumor-naïve liquid biopsy profiling. This methodology provides a streamlined, scalable solution for comprehensive liquid biopsy profiling and longitudinal measurable residual disease (MRD) monitoring in routine clinical practice.

Journal:

Publication date:

Authors:

Test:

Tumor-naïve multimodal profiling of circulating tumor DNA to detect minimal residual disease in solid tumors

The tumor-naïve method could be a reliable alternative to monitor ctDNA when obtaining high-quality tissue samples is challenging. The performance of this method was better in high ctDNA-shedding cancer or at the metastatic stage.

Journal:

Publication date:

Authors:

Test:

Tumor Genomic and Transcriptomic Analysis Integrated With Liquid Biopsy ctDNA Monitoring: Analytical Validation and Clinical Insights

Comprehensive genomic profiling (CGP) is a time- and tissue- efficient method to help guide precision oncology. To enhance the clinical utility of CGP, we investigated the performance of a novel strategy integrating tumor DNA and mRNA profiling, together with liquid biopsy ctDNA monitoring. Comprehensive genomic and transcriptomic profiling could reliably unveil genetic details not provided by DNA-only CGP. The integration of ctDNA detection further helped detect tumor-agnostic mutations and monitor treatment response.

Journal:

Publication date:

Authors:

Test:

Multimodal analysis of cell-free DNA enhances differentiation of early-stage breast cancer from benign lesions and healthy individuals

Breast cancer (BC) remains the second leading cause of cancer-related mortality among women worldwide. Liquid biopsy based on circulating tumor DNA (ctDNA) offers a promising noninvasive approach for early detection; however, differentiating malignant tumors from benign abnormalities remains a significant challenge.

Journal:

Publication date:

Authors:

Test:

Combination of BRCA deep targeted sequencing and shallow whole genome sequencing to detect homologous recombination deficiency in ovarian cancer

We developed an assay to accurately determine the homologous recombination deficiency status of ovarian tissue samples, including those with low DNA quality. This study was the first to analyze the prevalence and spectrum of homologous recombination deficiency in Vietnamese patients with ovarian cancer. Comprehensive assessment of homologous recombination deficiency should be performed instead of BRCA1/2 testing alone so that no patients miss their opportunity for PARPi treatment.

Journal:

Publication date:

Authors:

Test:

Personalized mutation tracking in circulating-tumor DNA predicts recurrence in patients with high-risk early breast cancer

The clinical utilization of circulating tumor DNA (ctDNA) in breast cancer (BC) management is not well-defined. In this prospective study, 168 patients with early-stage BC were recruited, serial blood samples were collected before and after surgery. Tumor-informed ctDNA testing was performed, which sequenced tumors for 95 genes followed by bespoke mPCR to track 1–9 mutations in the plasma. ctDNA was detected before surgery in 14.6%, 40.0%, 83.8%, and 80.0% of HR+ low-risk, HR+ high-risk, HR-HER2+ and HR-HER2- patients, respectively. Pre-operative ctDNA positivity was significantly associated with decreased disease-free survival (DFS) (adjusted HR = 3.09, 95% CI 2.65–80.0, p = 0.001). After a median 26.6-month follow-up, 11 patients relapsed, and ctDNA at landmark time point 2–4 weeks after surgery was detected in 50.0% (5/10) of cases. Landmark ctDNA clearance was associated with significantly longer DFS (p = 0.0009) and positive ctDNA persistence after adjuvant therapy occurred in 36.4% (4/11) of stage-III patients. During surveillance, ctDNA detection had 90.9% sensitivity and 98.8% specificity to predict recurrence, and median lead time of 9.7 months. Patients with detected ctDNA had shorter DFS than those with undetectable ctDNA (adjusted HR = 207.05, 95% CI 41.38- > 1000, p = 0.001). Therefore, ctDNA status both before and after surgery could help stratify recurrence risk for BC patients.

Journal:

Publication date:

Authors:

Test:

Real-World Utilization and Performance of Circulating Tumor DNA Monitoring to Predict Recurrence in Solid Tumors

In the early-stage I-III, preoperative ctDNA detection rates were 66.7%, 84.6%, 54.3%, 52.6%, 93.3%, and 75.0% for lung, colorectal, breast, gastric, liver, and ovarian cancers, respectively. After surgery, 84.4% (38/45) of patients with recurrence had ctDNA detected in the plasma, while 96.3% (210/218) of patients with no recurrence had negative results. Postoperative ctDNA positivity significantly increased the risk of recurrence (P 100 [95% CI, 26.9 to >100.0) cancers. In the metastatic stage IV, pretreatment ctDNA detection rates were 80.0%, 87.7%, 73.3%, 70.6%, 91.7%, and 81.8% for lung, colorectal, breast, gastric, liver, and ovarian cancers, respectively. Case studies were presented to demonstrate utilization of ctDNA at all cancer stages.

Journal:

Publication date:

Authors:

Test:

Cost-effective shallow genome-wide sequencing for profiling plasma cfDNA signatures to enhance lung cancer detection

Lung cancer (LC) screening via low-dose computed tomography (LDCT) faces challenges including high false-positive rates and low patient compliance. Circulating tumor DNA (ctDNA)-based tests offer a minimally invasive alternative but are limited by high costs and low sensitivity, particularly in early-stage detection. This study introduces a cost-effective, shallow genome-wide sequencing approach for LC detection by profiling multiple cell-free DNA (cfDNA) signatures.

Journal:

Publication date:

Authors:

Test:

Prospective validation study: a non-invasive circulating tumor DNA-based assay for simultaneous early detection of multiple cancers in asymptomatic adults

Non-invasive multi-cancer early detection (MCED) tests have shown promise in enhancing early cancer detection. However, their clinical utility across diverse populations remains underexplored, limiting their routine implementation. This study aims to validate the clinical utility of a multimodal non-invasive circulating tumor DNA (ctDNA)-based MCED test, SPOT-MAS (Screening for the Presence Of Tumor by DNA Methylation And Size).

Journal:

Publication date:

Authors:

Test:

Combination of Hotspot Mutations With Methylation and Fragmentomic Profiles to Enhance Multi-Cancer Early Detection

Multi-cancer early detection (MCED) through a single blood test significantly advances cancer diagnosis. However, most MCED tests rely on a single type of biomarkers, leading to limited sensitivity, particularly for early-stage cancers. We previously developed SPOT-MAS, a multimodal ctDNA-based assay analyzing methylation and fragmentomic profiles to detect five common cancers. Despite its potential, SPOT-MAS exhibited moderate sensitivities for early-stage cancers. This study investigated whether integrating hotspot mutations into SPOT-MAS could enhance its detection rates.

Journal:

Publication date:

Authors:

Test: