Article
Medicine, General & Internal
Min-Kyung So, Jong-Ho Park, Jong-Won Kim, Ja-Hyun Jang
Summary: This study aimed to evaluate the analytical validity of the Oncomine Pan-Cancer Cell-Free Assay, showing high sensitivity and precision in detecting EGFR mutations in lung cancer patients. The assay demonstrated comparable performance to the Cobas EGFR Mutation Test v2 and 100% concordance on clinical samples. Further studies are needed to assess the analytical validity for other gene types and aberrations in clinical samples.
Article
Oncology
Eva Welsch, Eva Schuster, Michael Krainer, Maximilian Marhold, Rupert Bartsch, Michael B. Fischer, Michael Hermann, Gabriele Hastermann, Heidemarie Uher, Gerhard Sliutz, Birgit Anker, Robert Zeillinger, Eva Obermayr
Summary: Liquid biopsy is a promising tool for monitoring cancer therapy, but further research is needed to improve sensitivity, specificity, standardization, and cost-effectiveness. In this study, two panels of transcripts related to circulating tumor cells (CTCs) were evaluated in breast cancer patients. The positivity rates of these panels were higher in metastatic patients compared to early-stage patients. Certain individual markers within these panels correlated with shorter overall survival in the metastatic patients. The findings highlight the additional value of non-epithelial phenotype markers in Panel 2.
Article
Oncology
Cor J. Ravensbergen, Matthew Kuruc, Meaghan Polack, Stijn Crobach, Hein Putter, Hans Gelderblom, Devjit Roy, Rob A. E. M. Tollenaar, Wilma E. Mesker
Summary: Liquid biopsy is a novel and minimally invasive method for tumor sampling, providing a comprehensive understanding of the molecular tumor landscape. However, the current liquid biopsy analytes mainly focus on malignant cells without considering the tumor microenvironment. In this study, the Stroma Liquid Biopsy(TM) (SLB) proteomics panel, which contains proteins related to key stromal pathways in cancer, was explored and characterized using an in-silico transcriptomics approach in colon cancer. The expression of SLB genes was found to be significantly enriched in tumors with high histologic stromal content, and a prognostic gene signature ratio was identified. The findings highlight the importance of considering the tumor microenvironment in liquid biopsy and provide valuable prognostic information.
Article
Oncology
Joseph W. Franses, Mir Lim, Adam M. Burgoyne, Kabir Mody, Jochen Lennerz, Jeremy Chang, Robin Imperial, Stacey N. Dybel, Thi M. Dinh, Jude Masannat, Caroline M. Weipert, David Hsiehchen
Summary: This study provides the first landscape of blood tumor mutational burden (bTMB) in advanced hepatocellular carcinoma (HCC) using a commercially available next-generation sequencing assay. The results show that bTMB is approximately three times higher than matched tissue TMB, and it correlates with NAFLD cirrhosis etiology and the presence of genomic alterations in HTERT and TP53.
Article
Oncology
Milou Schuurbiers, Zhongyun Huang, Senglor Saelee, Manana Javey, Leonie de Visser, Daan van den Broek, Kim Monkhorst, Michel van den Heuvel, Alexander F. Lovejoy, Daniel Klass
Summary: This study aimed to develop a small bTMB panel and explore a counting-based method for evaluating bTMB in NSCLC patients, finding that plasma samples with high bTMB values correlate well with tTMB, but low bTMB results may be due to low tumor burden in early disease stages or poorly shedding tumors.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2022)
Article
Medical Laboratory Technology
Kwang Seob Lee, Jieun Seo, Choong-Kun Lee, Saeam Shin, Zisun Choi, Seungki Min, Jun Hyuek Yang, Woo Sun Kwon, Woobin Yun, Mi Ri Park, Jong Rak Choi, Hyun Cheol Chung, Seung-Tae Lee, Sun Young Rha
Summary: The study developed a ctDNA panel named TMB500 with 531 genes and validated its accuracy and reliability for various clinical purposes.
CLINICAL CHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Shih-Hong Li, Min-Hsien Wu, Hung-Ming Wang, Ping-Chih Hsu, Yueh-Fu Fang, Chih-Liang Wang, Hui-Chun Chu, Hung-Chih Lin, Li-Yu Lee, Ching-Yang Wu, Cheng-Ta Yang, Jen-Shi Chen, Jason Chia-Hsun Hsieh
Summary: This study developed a hybrid platform using a negative and positive selection strategy to capture circulating tumor cells (CTCs) and detect EGFR mutations in patients with metastatic lung adenocarcinoma. The results showed that CTCs could serve as a reliable source of lung cancer tumor DNA for detecting EGFR mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Jasmine H. Francis, Christopher A. Barker, A. Rose Brannon, Julia Canestraro, Melissa Robbins, Christina E. Swartzwelder, Sara Levine, Crystal Law, Michael F. Berger, Alexander Shoushtari, David H. Abramson
Summary: This study aims to investigate the presence of plasma circulating tumor DNA (ctDNA) in patients with uveal melanoma during and after primary tumor treatment. The study found that ctDNA was significantly more detectable at 48 to 72 hours after plaque brachytherapy compared with less than 48 hours, and ctDNA can also be detected during enucleation. Relative increases in ctDNA levels may herald the development of clinically apparent metastases.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Oncology
Patrick Kirchweger, Alexander Kupferthaler, Jonathan Burghofer, Gerald Webersinke, Emina Jukic, Simon Schwendinger, Michael Weitzendorfer, Andreas Petzer, Reinhold Fuegger, Holger Rumpold, Helwig Wundsam
Summary: In this study, the association of pretherapeutic ctDNA levels with tumor volume and clinical outcomes in localized and metastatic PDAC patients was investigated. The results showed that the detection and levels of ctDNA were associated with different characteristics and patient outcomes in localized and metastatic PDAC.
Article
Oncology
Xuemin Xue, Lin Dong, Edwina Burke, Liyan Xue, Yong-Jie Lu
Summary: P53 suppresses tumorigenesis through various mechanisms, including genomic stability surveillance and modulation of cancer immune response. The interaction between p53 and DNA repair gene mutations and their impact on tumor mutation burden and immune response in human malignancies were investigated. It was found that p53 mutations are equally distributed between DNA repair gene mutation positive and negative cases in most human cancers. Co-occurrence of p53 and DNA repair gene mutations was observed in some cancers. However, in colorectal cancer, mutations in p53 and DNA repair genes were mutually exclusive. The complex impact of these mutations and their interaction on tumor microenvironment immune cells varied among different tumor types and was not always correlated with tumor mutation burden.
AMERICAN JOURNAL OF CANCER RESEARCH
(2022)
Review
Oncology
Shohei Udagawa, Akira Ooki, Eiji Shinozaki, Koshiro Fukuda, Kensei Yamaguchi, Hiroki Osumi
Summary: Molecularly targeted therapies have greatly advanced treatment options for colorectal cancer. Genomic profiling through liquid biopsies, specifically the analysis of circulating tumor DNA, is a promising method for personalized and effective cancer treatments. Ongoing clinical trials are evaluating the utility of this approach, which is expected to be integrated into clinical strategies for cancer treatment in the near future.
Article
Oncology
Hidenori Kage, Shinji Kohsaka, Kenji Tatsuno, Toshihide Ueno, Masachika Ikegami, Koichi Zokumasu, Aya Shinozaki-Ushiku, Sumimasa Nagai, Hiroyuki Aburatani, Hiroyuki Mano, Katsutoshi Oda
Summary: The accuracy of measuring tumor mutational burden using Todai OncoPanel deoxyribonucleic acid panel version 6 was high (96%) compared to version 3. Increasing the number of targeted genes and limiting intronic regions improved the measurement of tumor mutational burden. Non-synonymous coding tumor mutational burden may be the preferred method for measuring tumor mutational burden.
JAPANESE JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Cell Biology
Chan Xie, Hewei Wu, Tao Pan, Xingrong Zheng, Xiaoan Yang, Genglin Zhang, Yunwen Lian, Jiaxin Lin, Liang Peng
Summary: High tumor mutation burden (TMB) and immune-related gene mutations are associated with worse prognosis in hepatocellular carcinoma (HCC), with a TMB cutoff value of 4.9. The TMB-infiltration model fits well with actual survival observations and can predict tumor vascular invasion.
Review
Gastroenterology & Hepatology
Kenji Takahashi, Yohei Takeda, Yusuke Ono, Hajime Isomoto, Yusuke Mizukami
Summary: Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive and deadly cancer, and there is an urgent need for an efficient and reliable early-stage diagnosis approach. Precancerous lesions of PDAC, such as PanIN and IPMN, result from driver gene alterations and their detection in bodily fluids is crucial for diagnosis. Liquid biopsy has gained attention as a complement to pathological diagnosis, and molecular markers in cell-free DNA, RNA, and extracellular vesicles have been investigated for potential diagnostic and prognostic purposes. This review discusses current diagnostic approaches, genetic analysis, and liquid biopsy attempts for diagnosing pancreatic cancer.
JOURNAL OF GASTROENTEROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Daniela Gabbia, Sara De Martin
Summary: Hepatocellular carcinoma (HCC) is the second-leading cause of cancer-related death globally, and efforts have been made to find novel biomarkers for predicting patients' survival and treatment outcomes, especially in immunotherapy. The role of tumor mutational burden (TMB), the total number of mutations per coding area of a tumor genome, has been studied to determine whether it could be a reliable biomarker for stratifying HCC patients into subgroups with different responsiveness to immunotherapy or predicting disease progression, particularly in relation to different HCC etiologies. This review summarizes the recent advances in studying TMB and TMB-related biomarkers in HCC, focusing on their feasibility as guides for therapy decisions and predictors of clinical outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)