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  Access statistics : Table of Contents
   2017| March-April  | Volume 3 | Issue 2  
    Online since April 27, 2017

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Mutation detection with a liquid biopsy 96 mutation assay in cancer patients and healthy donors
Aaron Yun Chen, Glenn D Braunstein, Megan S Anselmo, Jair A Jaboni, Fernando Troy Viloria, Julie A Neidich, Xiang Li, Anja Kammesheidt
March-April 2017, 3(2):39-45
Aim: Detection of circulating tumor DNA (ctDNA) holds promise as an adjunct to traditional cancer screening methods. To determine the sensitivity and specificity of ctDNA measurements, levels were measured in plasma from patients with a cancer diagnosis and a low-risk, healthy population. Methods: We validated a plasma assay for detection of 96 ctDNA mutations in nine cancer genes (BRAF, CTNNB1, EGFR, FOXL2, GNAS, KRAS, NRAS, PIK3CA, and TP53). The assay reliably detects low levels of ctDNA, >2 copies. A total of 183 plasma samples from cancer patients were obtained along with plasma from 102 healthy individuals. Results: ctDNA was detected in 24.0% of cancer patients (14.7% stage I, 18.8% II, 33.3% III, and 50.0% IV). ctDNA was not detected in 96% of low-risk subjects. Three subjects tested positive for one mutation and one subject tested positive for two mutations. ctDNA levels in positive subjects were followed for a year, and levels remained steady with small fluctuation. Multiple lung nodules found in the subject with two mutations have remained stable for 1 year. None of the healthy individuals was diagnosed with cancer in the year following study entry. Conclusion: The sensitivity of the ctDNA assay was 24.0% in the mixture of cancers. The specificity was 96.1%. In the low cancer risk population, the apparent false positive detection rate for ctDNA at 1 year is 3.9%.
  2,975 421 4
Exosomes biology: Function and clinical implications in lung cancer
Martin Frederik Dietrich, Christian Rolfo, Pablo Reclusa, Marco Giallombardo, Anna Valentino, Luis E Raez
March-April 2017, 3(2):58-63
Lung cancer is the most common malignancy in the United States, totaling 225,000 cases per year. In recent years, several new treatment options have become available based on the molecular and cellular characterization of the disease. More recently, "liquid biopsies" have received attention to complement traditional tissue biopsies and to enhance the spectrum of analysis for tumor-derived factors. As one of these tumor characteristics, extracellular vesicles (EVs) are lipid bilayered EVs that can cargo a variety of factors, including growth factors and their receptors, RNA transcripts, microRNAs, and DNA, among others. Initial acceptance as mere physiological products has been attributed to the presence of exosomes in healthy individuals, and the large diversity of exosomes that have made the assignment of distinct pathophysiological roles difficult. While their role in clinical application has not yet been established, they have emerged from their once thought innocent role as a bystander to a critical mediator of intratumoral signaling, tumor progression, chemotherapy resistance, and metastasis. In this review, we have summarized the structure and biology of EVs, their role in lung cancer, and the potential diagnostic and therapeutic implications for the treatment of this complex disease.
  2,716 469 -
Circulating micrornas and long noncoding rnas: Liquid biomarkers in thoracic cancers
Pablo Reclusa, Anna Valentino, Rafael Sirera, Martin Frederik Dietrich, Luis Estuardo Raez, Christian Rolfo
March-April 2017, 3(2):53-57
Thoracic cancers are the leading causes of cancer-related deaths worldwide. Recent advances in genome and transcriptome analysis have allowed for the identification of numerous classes of noncoding RNAs (ncRNAs) that play important roles either in a biological process or human disease. microRNAs (miRNAs) are small, 19–22 nucleotides, ncRNAs that regulate posttranscriptional gene expression by binding to the 3' untranslated region (3'UTR) of their target mRNA. Conversely, long noncoding RNAs (lncRNAs) are a novel class of transcripts longer than 200 nucleotides that do not encode any proteins. Some lncRNAs can interact with miRNAs and act as repressors, impeding them to bind to their protein-coding targets. There is cumulative evidence that these ncRNAs contribute to the tumorigenic process regulating cell growth, apoptosis, and metastasis, and may serve as biomarkers in various types of tumors. In this review, we have summarized the important role of ncRNAs as promising biomarkers in liquid biopsy for the diagnosis and prognosis of thoracic malignancies such as lung cancer, mesothelioma, and thymoma.
  2,510 313 2
The application of estrogen receptor-1 mutations' detection through circulating tumor dna in breast cancer
Binliang Liu, Yalan Yang, Zongbi Yi, Xiuwen Guan, Fei Ma
March-April 2017, 3(2):46-52
Breast cancer is the most common cancer in women worldwide. Endocrine therapy is the cornerstone of treatment for patients with hormone receptor-positive advanced breast cancer. Unfortunately, although most patients initially respond to endocrine treatment, they will eventually acquire resistance to endocrine therapy. The mechanisms of endocrine resistance are complicated. In particular, the estrogen receptor-1 (ESR1) mutation has been recognized as an important topic in recent years. Mutation of ESR1 leads to complete aromatase inhibitor resistance and partial resistance to estrogen receptor agonists and antagonists. Therefore, during clinical treatment, it is of great importance to continuously monitor ESR1 mutations before and after endocrine therapy. Conventional tissue biopsies have unavoidable disadvantages, and therefore, the use of circulating tumor DNA (ctDNA) has become more prevalent because it is noninvasive and convenient, has excellent sensitivity, and can quickly assess the overall situation of the tumor. The current methods for detecting ctDNA ESR1 mutations mainly include droplet digital polymerase chain reaction and next-generation sequencing techniques. Based on their advantages and disadvantages, we can establish an initial ESR1 mutation monitoring system. However, developing robust methods to monitor ESR1 mutation, detecting endocrine drug resistance, and evaluating prognoses for guiding clinical treatment strategies require long-term exploration. In this review, we will summarize recent concepts and advancements regarding ESR1 mutation monitoring, ctDNA detection technology, and their application in endocrine therapy of breast cancer.
  2,271 267 2
Circulating tumor DNA: A potential biomarker from solid tumors' monitor to anticancer therapies
Ting Chen, Rongzhang He, Xinglin Hu, Weihao Luo, Zheng Hu, Jia Li, Lili Duan, Yali Xie, Wenna Luo, Tan Tan, Di-Xian Luo
March-April 2017, 3(2):64-67
Circulating tumor DNA (ctDNA) in the peripheral blood is a liquid biopsy that contains representative tumor information including gene mutations. ctDNA is a promising new avenue for real-time monitoring of tumor progression. As a noninvasive biomarker and potential surrogate for the entire tumor genome, it has been applied to the detection of driver gene mutations and epigenetic alteration as well as monitoring of tumor burden, acquired resistance, tumor heterogeneity, and early diagnosis. Since precise therapy is a strategy that optimal therapy is decided based on simultaneous tumor genome information, ctDNA may help perform dynamic genetic surveillance. Dynamic marker surveillance may provide critical information to identify disease progression and guide therapeutic options. This review provides an overview on related articles about ctDNA, with a focus on monitoring response of solid tumors to anticancer therapies.
  2,149 308 1