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Differential Genetic Diagnosis between Leiomyoma and Leiomyosarcoma
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Alba Machado-Lopez, Aymara Mas
Recently, the concept of a “liquid biopsy” has emerged as a minimally invasive alternative to surgical biopsies for solid tumors that harbor highly recurrent mutations, avoiding tumor-tissue sampling before and after treatment (62). Liquid biopsy is typically accomplished through withdrawal of a blood sample or other body fluids to provide tumor-specific information from circulating tumor cells (CTCs) and/or circulating cell-free DNA (cfDNA) or RNA (cfRNA) (63–65). All these factors are present in peripheral blood, escaping from apoptotic or necrotic cells of primary tumors and releasing DNA/RNA fragments into the circulation in different forms, including mRNA, miRNA, long non-coding RNA (lncRNA) (66), and circular RNA (circRNA) (67,68). Similarly, tumor-educated platelets—blood platelets of cancer patients that contain RNA biomarkers derived from the tumor—have been studied in many different cancer types (e.g., breast, lung, ovary) and show advantages over other liquid biopsy sources due to their abundance and ease of isolation, among other features (69) (Figure 25.4).
The Precision Medicine Approach in Oncology
Published in David E. Thurston, Ilona Pysz, Chemistry and Pharmacology of Anticancer Drugs, 2021
The CobasTM EGFR (V2) mutation test (developed by Roche Molecular Diagnostics) is an FDA-approved assay used for the detection of EGFR mutations in NSCLC patients. It is used to identify patients who should benefit from treatment with the tyrosine kinase inhibitors erlotinib (TarcevaTM) or osimertinib (TagrissoTM). The test is different from many others described in this section in that it uses plasma samples from patients rather than biopsy material, and works by detecting small amounts of circulating DNA shed by the tumor. Thus, it is known as a “liquid biopsy” and is minimally invasive which is beneficial for both the patient and clinical team.
Biomarkers for the Immune Checkpoint Inhibitors
Published in Sherry X. Yang, Janet E. Dancey, Handbook of Therapeutic Biomarkers in Cancer, 2021
Weijie Ma, Sixi Wei, Eddie C. Tian, Tianhong Li
Although much attention is focused on tumor tissues in immune biomarker research, tumor derived biomarkers have shown limitations mainly due to inadequate tumor sampling, invasive procedures or lack of consensus in IHC staining. Multiple liquid biopsy molecular methods, which are more easily obtained and more accessible, have been examined to determine their efficacy as surrogates to the tumor tissue biopsy.
Factors influencing platelet isolation: a prospective multicenter study from Western China
Published in Platelets, 2023
Shan Liu, Guishu Yang, Guangqun Zeng, Xihao Zhou, Rong Chen, Bin Chen, Jin Chen, Xiaoxia Wen, Xingmei Zhang, Hanxiao Ren, Ruiling Zu, Dongsheng Wang, Ping Leng, Huaichao Luo
Currently, cancer is one of the most common cause of premature death in most countries [1]. Early screening is important for cancer diagnosis and treatment and can even significantly lower cancer mortality [2]. Liquid biopsy refers to the detection technology that reflects the molecular characteristics and dynamic changes of tumors by collecting human body fluids (blood, urine, saliva, etc.) as test samples [3]. Liquid biopsy has gained increasing interest in recent years due to its noninvasive nature, frequent multiple detection capabilities, and quick reaction capabilities [3]. Currently, the primary components of liquid biopsy used in clinical trials, include circulating tumor cells (CTCs) [4], circulating tumor DNA (ctDNA) [5], exosomes [6], TEPs [7], circulating tumor RNA (ctRNA), etc [8,9].
Cost-effectiveness analysis of LungLB for the clinical management of patients with indeterminate pulmonary nodules
Published in Journal of Medical Economics, 2023
John E. Schneider, Shawn Davies, Maggie Do Valle, Nadine Chami, Paul C. Pagano, David Anderson, Michael J. Donovan
The findings are generally consistent with the expectation that improvement in diagnostic accuracy will improve health outcomes as well as increase costs resulting in a positive ICER. A study examining the clinical benefit and cost-effectiveness of liquid biopsy in a German cancer care setting in patients with advanced non-small cell lung cancer found that the use of liquid biopsy in addition to tissue biopsy increases costs by €394 but is moderately more effective (ICER €53,909/QALY)22. Many studies have also highlighted the advantages of using liquid biopsy technology including early lung cancer diagnosis, more accurate drug use, dynamic monitoring, prognosis evaluation of lung cancer, simpler sample processing requirements, greater convenience and better patient acceptability, faster access to effective therapies, better symptom control and quality-of-life, prevention of rapid clinical deterioration, and reduction in patient anxiety at diagnosis23,24. While the findings of this analysis are preliminary, they highlight the fact that there is room for improvement in the diagnostic pathway of patients with IPNs. Under the current model assumptions, we assume that LungLB will not replace CDP but allows for greater cost savings from a reduction in unnecessary procedures and subsequently better outcomes through an additional reduction in delays to treatment. It is possible that as research into the use of LungLB continues, the technology may change the current CDP, resulting in greater cost-effectiveness.
The expression of PHOX2B in bone marrow and peripheral blood predicts adverse clinical outcome in non-high-risk neuroblastoma
Published in Pediatric Hematology and Oncology, 2022
Hongjun Fan, Tianyu Xing, Huimin Hong, Chao Duan, Wen Zhao, Qian Zhao, Xisi Wang, Cheng Huang, Shuai Zhu, Mei Jin, Yan Su, Chao Gao, Xiaoli Ma
Liquid biopsy has been widely used for diagnosing, monitoring, and prognosticating a variety of cancer types during the last decade.41 In neuroblastoma, the detection of CD45(-)CD56(+)CD81(+)GD2(+) cells in BM samples using multicolor flow cytometry (MFC) was associated with the outcomes of neuroblastoma.42 An increased plasma concentration of cfDNA can also be used to monitor disease recurrence in high-risk neuroblastoma.12 Based on RTqPCR, TH, doublecortin (DCX), cholinergic receptor3 (CHRNA3), PHOX2B, and growth-associated protein 43 (GAP43) were identified as MRD markers for neuroblastoma.23,33,43 In addition, PHOX2B has been found to be a superior MRD biomarker to other markers with more sensitivity and specificity in neuroblastoma.19,22,28