ArticleMolecular therapy. Nucleic acids2021
NGS-based accurate and efficient detection of circulating cell-free mitochondrial DNA in cancer patients.
Article in Molecular therapy. Nucleic acids, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07356466 (Clinical Efficacy of Pucotenlimab Combined With Lenvatinib and SOX Versus SOX Alone in Patients With HER2-Negative Advanced Gastric or Gastroesophageal Junction Adenocarcinoma), which is not on this map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical Efficacy of Pucotenlimab Combined With Lenvatinib and SOX Versus SOX Alone in Patients With HER2-Negative Advanced Gastric or Gastroesophageal Junction Adenocarcinoma: A Single-Center Randomized Controlled Trial
Who cites it
34 citing papers in PubMed, 49 citations in OpenAlex.
- Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.Scientific reports · 2021Trial
- Circulating cell-free mtDNA fragmentomics for early detection of gastric cancer and precancerous lesions.Cell reports. Medicine · 2026Article
- Biological basis and clinical translation prospects of circulating cell-free DNA in precision management of breast cancer (Review).Oncology letters · 2026Review
- An improved analytic workflow for serum mtDNA DAMP abundance, fragmentation and heteroplasmic variants: a retrospective analysis of acute respiratory failure patients.Scientific reports · 2026Article
- Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.Biomarker research · 2026Review
- Mitochondrial dysfunction as a metabolic checkpoint of immunotherapy response in colorectal cancer.Frontiers in immunology · 2026Review
- Serum mtDNA DAMP abundance, fragmentation and heteroplasmic variants associate with Acute Respiratory Failure outcome: A secondary analysis of study NCT00976833.medRxiv : the preprint server for health sciences · 2025Article
- Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.World journal of methodology · 2025Review
- Mitochondrial echoes in the bloodstream: decoding ccf-mtDNA for the early detection and prognosis of hepatocellular carcinoma.Cell & bioscience · 2025Review
- Circulating cell-free mitochondrial DNA for diagnosing hepatocellular carcinoma and assessing prognosis: Editorial on "Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma".Clinical and molecular hepatology · 2025Article
- SERPINI1 serves as a biomarker promoting cell proliferation and invasion in hepatocellular carcinoma.Cancer cell international · 2025Article
- Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma.Clinical and molecular hepatology · 2025Article
- Aberrant fragmentomic features of circulating cell-free mitochondrial DNA as novel biomarkers for multi-cancer detection.EMBO molecular medicine · 2024Article
- Article
- Comparison of capture-based mtDNA sequencing performance between MGI and illumina sequencing platforms in various sample types.BMC genomics · 2024Article
- MtDNA deletions and aging.Frontiers in aging · 2024Review
- Mitochondrial DNA Sensing Pathogen Recognition Receptors in Systemic Sclerosis Associated Interstitial Lung Disease: A Review.Current treatment options in rheumatology · 2023Article
- Mitochondrial Dysfunction in PCOS: Insights into Reproductive Organ Pathophysiology.International journal of molecular sciences · 2023Review
- Cell-free DNA in the management of prostate cancer: Current status and future prospective.Asian journal of urology · 2023Review
- Metastatic pattern of ovarian cancer delineated by tracing the evolution of mitochondrial DNA mutations.Experimental & molecular medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial DNA (mtDNA) mutations are closely implicated in the pathogenesis of multiple cancers, making circulating cell-free mtDNA (ccf-mtDNA) as a potential non-invasive tumor biomarker. However, an effective approach to comprehensively profile ccf-mtDNA mutations is still lacking. In this study, we first characterized ccf-mtDNA by low-depth whole-genome sequencing (WGS) and found that plasma DNA samples exhibited a dramatic decrease in mtDNA copy number when compared with fresh tumor tissues. Further analysis revealed that plasma ccf-mtDNA had a biased distribution of fragment size with a peak around 90 bp. Based on these insights, we developed a robust captured-based mtDNA deep-sequencing approach that enables accurate and efficient detection of plasma ccf-mtDNA mutations by systematic optimization of probe quantity and length, hybridization temperature, and PCR amplification cycles. Moreover, we found that placement of isolated plasma for 6 h at both 4°C and room temperature (RT) led to a dramatic decrease of ccf-mtDNA stability, highlighting the importance of proper plasma sample processing. We further showed that the optimized approach can successfully detect a substantial fraction of tumor-specific mtDNA mutations in plasma ccf-mtDNA specifically from hepatocellular carcinoma (HCC) patients but not from colorectal cancer (CRC) patients, suggesting the presence of a potential cancer-specific difference in the abundance of tumor-derived mtDNA in plasma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.