scholarly journals Opting for Local Region in SHOX2 Promoter as a DNA Methylation Biomarker for Lung Cancer Diagnosis

Author(s):  
Pham Anh Thuy Duong ◽  
Nguyen Thu Trang ◽  
Nguyen Thuy Ngan ◽  
Vo Thi Thuong Lan

Epigenetic alterations play a main role in the initiation and progression of lung cancer.  CpG methylation in the promoter of the Short Stature Homeobox 2 (SHOX2) gene has been evaluated and validated at different stages of this malignant disease. Several approaches for measuring DNA methylation have been established, including quantitative methylation-specific PCR (qMSP). This is a simple, fast, and cost-effective technique that can be easily applied to clinical practice. In this study, formalin-fixed, paraffin-embedded (FFPE) tissue samples were collected from 30 lung cancer patients and 30 patients suffering from non-cancerous pulmonary diseases.  The methylation level of SHOX2 was evaluated in two CpG-riched regions by using qMSP and one of them could be conferred as a potential biomarker to lung cancer.

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Wei Xu ◽  
Jun Lu ◽  
Qiang Zhao ◽  
Jun Wu ◽  
Jielin Sun ◽  
...  

As a noninvasive blood testing, the detection of cell-free DNA (cfDNA) methylation in plasma has raised an increasing interest due to diagnostic applications. Although extensively used in cfDNA methylation analysis, bisulfite sequencing is less cost-effective. In this study, we investigated the cfDNA methylation patterns in lung cancer patients by MeDIP-seq. Compared with the healthy individuals, 330 differentially methylated regions (DMRs) at gene promoters were identified in lung cancer patients with 33 hypermethylated and 297 hypomethylated regions, respectively. Moreover, these hypermethylated genes were validated with the publicly available DNA methylation data, yielding a set of ten significant differentially methylated genes in lung cancer, including B3GAT2, BCAR1, HLF, HOPX, HOXD11, MIR1203, MYL9, SLC9A3R2, SYT5, and VTRNA1-3. Our study demonstrated MeDIP-seq could be effectively used for cfDNA methylation profiling and identified a set of potential biomarker genes with clinical application for lung cancer.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Lei Li ◽  
Zhujia Ye ◽  
Sai Yang ◽  
Hao Yang ◽  
Jing Jin ◽  
...  

Abstract Background Lung cancer is the leading cause of cancer-related mortality. The alteration of DNA methylation plays a major role in the development of lung cancer. Methylation biomarkers become a possible method for lung cancer diagnosis. Results We identified eleven lung cancer-specific methylation markers (CDO1, GSHR, HOXA11, HOXB4-1, HOXB4-2, HOXB4-3, HOXB4-4, LHX9, MIR196A1, PTGER4-1, and PTGER4-2), which could differentiate benign and malignant pulmonary nodules. The methylation levels of these markers are significantly higher in malignant tissues. In bronchoalveolar lavage fluid (BALF) samples, the methylation signals maintain the same differential trend as in tissues. An optimal 5-marker model for pulmonary nodule diagnosis (malignant vs. benign) was developed from all possible combinations of the eleven markers. In the test set (57 tissue and 71 BALF samples), the area under curve (AUC) value achieves 0.93, and the overall sensitivity is 82% at the specificity of 91%. In an independent validation set (111 BALF samples), the AUC is 0.82 with a specificity of 82% and a sensitivity of 70%. Conclusions This model can differentiate pulmonary adenocarcinoma and squamous carcinoma from benign diseases, especially for infection, inflammation, and tuberculosis. The model’s performance is not affected by gender, age, smoking history, or the solid components of nodules.


Mutagenesis ◽  
2020 ◽  
Author(s):  
Kristina Daniunaite ◽  
Agne Sestokaite ◽  
Raimonda Kubiliute ◽  
Kristina Stuopelyte ◽  
Eeva Kettunen ◽  
...  

Abstract Cancer deaths account for nearly 10 million deaths worldwide each year, with lung cancer (LCa) as the leading cause of cancer-related death. Smoking is one of the major LCa risk factors, and tobacco-related carcinogens are potent mutagens and epi-mutagens. In the present study, we aimed to analyse smoking-related epigenetic changes in lung tissues from LCa cases. The study cohort consisted of paired LCa and noncancerous lung tissues (NLT) from 104 patients, 90 of whom were smokers or ex-smokers (i.e. ever smokers) at the time of diagnosis. DNA methylation status of tumour suppressor genes DAPK1, MGMT, p16, RASSF1 and RARB was screened by means of methylation-specific PCR (MSP) and further analysed quantitatively by pyrosequencing. Methylation of at least one gene was detected in 59% (61 of 104) of LCa samples and in 39% (41 of 104) of NLT. DAPK1 and RASSF1 were more frequently methylated in LCa than in NLT (P = 0.022 and P = 0.041, respectively). The levels of DNA methylation were higher in LCa than NLT at most of the analysed CpG positions. More frequent methylation of at least one gene was observed in LCa samples of ever smokers (63%, 57 of 90) as compared with never smokers (36%, 5 of 14; P = 0.019). In the ever smokers group, methylation of the genes also occurred in NLT, but was rare or absent in the samples of never smokers. Among the current smokers, RASSF1 methylation in LCa showed association with the number of cigarettes smoked per day (P = 0.017), whereas in NLT it was positively associated with the duration of smoking (P = 0.039). Similarly, p16 methylation in LCa of current smokers correlated with the larger number of cigarettes smoked per day (P = 0.047). Overall, DNA methylation changes were present in both cancerous and noncancerous tissues of LCa patients and showed associations with smoking-related parameters.


2011 ◽  
Author(s):  
Matthew D. Wilkerson ◽  
Xiaoying Yin ◽  
Michele C. Hayward ◽  
Nirmal K. Veeramachaneni ◽  
Benjamin E. Haithcock ◽  
...  

2018 ◽  
Vol 8 (11) ◽  
pp. 75
Author(s):  
Sakina Badiallah Abulqassemi Kashkoei ◽  
Jessie Johnson ◽  
Janet Rankin ◽  
Robert Johnson

Objective: The aims of this research were to learn about the lived experiences of patients with lung cancer who smoke tobacco and to provide nurses with more insights into complexities of people’s relationship with their smoking.Methods: Descriptive phenomenology was used to explore the lived experiences of smokers with lung cancer. An in-depth unstructured conversational style interview was used as a method for data collection. The study was conducted in the inpatient, outpatient, and day care units at the National Center for Cancer Care and Research (NCCCR) in Qatar. Purposive sampling was used to recruit five lung cancer patients who smoke. Colaizzi’s (1978) method was used to analyze data.Results: Participants described three related themes: (a) fate, (b) a socially acceptable addiction, and (c) self-blame and guilt.Conclusions: The findings of this study are of interest to nurses and physicians who work with lung cancer patients. The findings provide insight into experiences of patients who continue to smoke after their lung cancer diagnosis. Nurses within the smoking cessation clinic will also benefit from patients’ descriptions of what they consider useful and supportive in regards to an empathetic, coaching response to their relationships with tobacco. Future study is needed to elucidate nurses' perception on lung cancer patients who continue to smoke.


2020 ◽  
Vol 13 (2) ◽  
pp. 896-903
Author(s):  
Brendan Seng Hup Chia ◽  
Wen Long Nei ◽  
Sabanayagam Charumathi ◽  
Kam Weng Fong ◽  
Min-Han Tan

The use of circulating cell-free tumour DNA (ctDNA) is established in metastatic lung adenocarcinoma to detect and monitor sensitising EGFR mutations. In early-stage disease, there is very little data supporting its role as a potential biomarker. We report on a prospective cohort of 9 limited-stage EGFR mutant lung cancer patients who were treated with radical radiotherapy. We looked at baseline plasma EGFR ctDNA and noted the detection rates to be higher in locally advanced disease. At a median follow-up of 13.5 months, an association between a detectable pre-radiotherapy plasma EGFR ctDNA and early tumour relapse (155 days vs. NR, p = 0.004) was noted. One patient with persistent plasma EGFR ctDNA predated radiological progression. The role of ctDNA in early-stage lung cancer is developing. Plasma EGFR ctDNA could be a useful biomarker in lung cancer patients undergoing radical treatments for staging, prognostication, and follow-up. These preliminary findings should be explored in larger studies.


2013 ◽  
Vol 405 (27) ◽  
pp. 8859-8869 ◽  
Author(s):  
Chiung-Wen Hu ◽  
Huei Lee ◽  
Jian-Lian Chen ◽  
Yi-Jie Li ◽  
Mu-Rong Chao

Sign in / Sign up

Export Citation Format

Share Document