scholarly journals Value of Serum NEUROG1 Methylation for the Detection of Advanced Adenomas and Colorectal Cancer

Diagnostics ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 437
Author(s):  
Olalla Otero-Estévez ◽  
María Gallardo-Gomez ◽  
María Páez de la Cadena ◽  
Francisco Javier Rodríguez-Berrocal ◽  
Joaquín Cubiella ◽  
...  

Aberrant DNA methylation detected in liquid biopsies is a promising approach for colorectal cancer (CRC) detection, including premalignant advanced adenomas (AA). We evaluated the diagnostic capability of serum NEUROG1 methylation for the detection of AA and CRC. A CpG island in NEUROG1 promoter was assessed by bisulfite pyrosequencing in a case-control cohort to select optimal CpGs. Selected sites were evaluated through a nested methylation-specific qPCR custom assay in a screening cohort of 504 asymptomatic family-risk individuals. Individuals with no colorectal findings and benign pathologies showed low serum NEUROG1 methylation, similar to non-advanced adenomas. Contrarily, individuals bearing AA or CRC (advanced neoplasia—AN), exhibited increased NEUROG1 methylation. Using >1.3518% as NEUROG1 cut-off (90.60% specificity), 33.33% of AN and 32.08% of AA were identified, detecting 50% CRC cases. Nonetheless, the combination of NEUROG1 with fecal immunochemical test (FIT), together with age and gender through a multivariate logistic regression resulted in an AUC = 0.810 for AN, and 0.796 for AA, detecting all cancer cases and 35–47% AA (specificity 98–95%). The combination of NEUROG1 methylation with FIT, age and gender demonstrated a convenient performance for the detection of CRC and AA, providing a valuable tool for CRC screening programs in asymptomatic individuals.

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Bianca Rosa Viana Freitas ◽  
Cristiane Kibune Nagasako ◽  
Celia Regina Pavan ◽  
Sônia Letícia Silva Lorena ◽  
Fabio Guerrazzi ◽  
...  

Background. Fecal immunochemical tests (FITs) have been used for colorectal cancer (CRC) screening in several countries. There is lack of information concerning diagnostic performances of this method in Brazil.Methods. Patients scheduled for elective colonoscopy provided one stool sample one week before colonoscopy. The accuracy of a qualitative FIT for detection of CRC and advanced adenomas was determined.Results. Overall 302 patients completed the study. Among them, 53.5% were high risk patients referred for screening or surveillance. Nine (3%) CRCs and 11 (3.6%) advanced adenomas were detected by colonoscopy. Sensitivity and specificity for CRC were, respectively, 88.9% and 87.6%. For advanced adenomas, sensitivity was 63.6% and specificity 87.6%.Conclusion. Our results showed good sensitivity and specificity of the FIT for detecting advanced neoplasias. This method may be a valuable tool for future screening programs in Brazil.


2021 ◽  
Vol 6 (2) ◽  
pp. 75-81
Author(s):  
A. N. Volkov ◽  
E. V. Tsurkan

Aim. To analyze age and gender distribution in patients with Gilbert's syndrome.Materials and Methods. We consecutively recruited 115 patients with Gilbert's syndrome. All patients underwent genotyping of the rs8175347 polymorphism within the UGT1A1 gene using allele-specific polymerase chain reaction to confirm the diagnosis.Results. The age of initial diagnosis ranged from 3 years to 71 years, with the majority (44.3%) of cases detected ≤ 20 years of age. Mean ± standard error and median age of the diagnosis were 30.03 ± 1.72 years and 23 years. Despite the proportion of females and males among patients was similar, age distribution at primary diagnosis was significantly different across the genders. In women, Gilbert's syndrome was most frequently detected between 11 and 20 years (23.1%) and between 51 and 60 years (19.2%). In contrast, male adolescents were more prone to the development of Gilbert's syndrome, as 47.6% of male patients belonged to this age category.Conclusions. Variable age of Gilbert's syndrome diagnosis is probably determined by an individual combination of genetic causes (e.g., mutation of the UGT1A1 gene) and additional risk factors. Adolescents compose a significant proportion of patients. Because of relatively mild disease in many patients and unpredictability of the provoking factors, primary detection of Gilbert's syndrome can be delayed. Differences in age of Gilbert's syndrome diagnosis across the genders can be partially explained by organizational reasons associated with the current screening programs. 


2020 ◽  
Vol 56 (1) ◽  
pp. 15
Author(s):  
Husin Thamrin ◽  
Khafidhotul Ilmiah ◽  
Ni Wajan Tirthaningsih

Colorectal cancer has became burden in the world.The latest study shows that colorectal cancer is the third most common cancer in men and second most common cancer in women globally. There are difference characteristic of epidemiology in every countries. Moreover, there is no study that represents epidemiology of colorectal cancer in Indonesia yet, especially in East Java. The aim of this study was to describe colorectal tumor profile by age and gender in Gastroentero-Hepatology Center, Dr Soetomo Hospital. This study has received a certificate of Ethical Clearance No.273/Panke.KKE/IV/2015, a descriptive retrospective study. We collected data using medical records, and patients who have been colonoscopy examination and suspected colorectal tumor were included. There were 201 patients, divided to 100 males and 101 females. The peak of incidence was on 51-60 years old group, but on the 31-40 years old incidence of colorectal tumor was increased. The youngest patient was 17 years old. And tumors are more likely develop in distal area, especially in rectum. This study shows a different characteristic profile of colorectal tumor, where tumor is developed at young people and there is no significant difference between male and female for the incidence.


2016 ◽  
Vol 85 (2) ◽  
pp. 29-31
Author(s):  
Melissa Holdren ◽  
Brittany Deller ◽  
Kevin Braden

Colorectal cancer (CRC) is a major cause of morbidity and mortality throughout the world and is the second most common cause of Canadian cancer-related deaths in men and the third most common in women. Most CRC appears to arise from the gradual development and advancement of colonic adenomatous polyps to cancerous tissue. This developmental process of CRC is the rationale for screening programs which aim to reduce CRC-related morbidity and mortality by early detection and removal of adenomatous polyps, specifically advanced adenomas. Although both the gFOBT and FIT function to detect occult bleeding in asymptomatic patients at average risk for CRC development, the mechanisms of these screening tests are distinct. gFOBT works by detecting the peroxidase activity of heme whereas FIT selectively detects human hemoglobin. The sensitivity in detecting CRC is higher for the FIT, with sensitivity of 0.79 compared to gFOBT with sensitivity of 0.36, they have similar specificities of 0.94 and 0.96, respectively. Currently, both the gFOBT and FIT are strongly recommended across Canada, with all provinces using the FIT, apart from Ontario and Manitoba which currently use the gFOBT to screen asymptomatic patients for CRC. A newer test, the sDNA test, identifies mutations in DNA that are shed by both adenomatous polyps and CRC cells. The sDNA test is more sensitive (0.92 95% CI 0.83-0.98) than both the gFOBT and FIT, however, is less specific and more expensive. Further data surrounding the sDNA test will be required prior to its implementation and recommendation for population based CRC screening in Canada. 


2013 ◽  
Vol 24 (6) ◽  
pp. 521-531 ◽  
Author(s):  
Gulsah SEYDAOGLU ◽  
Birol OZER ◽  
Nilgun ARPACI ◽  
Cem Kaan PARSA ◽  
Ismail Cem ERAY

2016 ◽  
Vol 48 (5) ◽  
pp. 542-551 ◽  
Author(s):  
Cristina Alvarez-Urturi ◽  
Montserrat Andreu ◽  
Cristina Hernandez ◽  
Francisco Perez-Riquelme ◽  
Fernando Carballo ◽  
...  

2012 ◽  
Vol 27 (3) ◽  
pp. 195-202 ◽  
Author(s):  
Tiziana Rubeca ◽  
Benedetta Peruzzi ◽  
Massimo Confortini ◽  
Stefano Rapi

Several immunological fecal occult blood tests (FOBT) are currently available for colorectal cancer (CRC) screening. We compared the HM Jack (Jack) (Kiowa, Japan), with the OC-Hemodia (OC) (Eiken, Japan) in use in the Florence screening program. Aims of the study were: (i) to investigate the diagnostic performance and the best cutoff value for Jack; (ii) to evaluate the handiness of sampling tubes; (iii) to compare costs. A total of 5,044 subjects were screened with both tests. Sampling tube investigation was performed running each sample on both instruments. A number of 352 subjects positive for at least one test (175 OC, 310 Jack) were selected for further investigations, while 46 subjects refused further assessments. Analysis of costs related to the assessment phase was performed on the basis of Tuscany region's fares. Amongst the 306 subjects investigated, 9 CRC and 67 advanced adenomas (AdA) were detected. Detection rates (DR) were 1.4‰ for CRC and 9.6‰ for AdA. After Jack cutoff optimization, DR for CRC+AdA resulted in 11.1‰ for OC and 13.3‰ for Jack (p=0.041). Sensitivity of the methods was 73.7 for OC and 88.2 for Jack; specificity was 97.6 for OC and 96.0 for Jack, resulting in an increase of the required assessments from 3.5% to 5.1%. No differences were observed between sampling methods. Despite the lower specificity of Jack, its greater sensitivity makes the method attractive for screening programs. An increase of the costs of 30% for every subject investigated for pathological lesion (CRC+AdA) may be thus foreseen.


Biomolecules ◽  
2019 ◽  
Vol 10 (1) ◽  
pp. 16
Author(s):  
Saray Duran-Sanchon ◽  
Elena Vila-Navarro ◽  
Maria Marcuello ◽  
Juan José Lozano ◽  
Jenifer Muñoz ◽  
...  

Background: Circulating microRNA (miRNA) analysis is a growing research field. However, it usually requires an endogenous control or housekeeping (HK) in order to normalize expression of specific miRNAs throughout different samples. Unfortunately, no adequate HK for circulating miRNA analysis is still known in the colorectal cancer (CRC) context whereas several have been suggested. Hence, our aims were to validate the previously suggested miR-1228-3p as HK for CRC studies, to compare its suitability with the widely used miR-16-5p, and to evaluate the influence of hemolysis on both miRNAs. Methods: We analyzed by quantitative reverse-transcription polymerase chain reaction (qRT-PCR) the expression of miR-1228-3p, miR-16-5p and the spike-in cel-miR-39 in a set of 297 plasmas (92 CRC, 101 advanced adenomas -AA-, and 100 controls) and 213 serum samples (59 CRC, 74 AA and 80 controls). We also analyzed both miRNAs depending on the hemolysis degree in 7 plasmas and 31 serums. Results: Levels of miR-1228-3p and miR-16-5p did not show significant differences between groups although miR-16-5p exhibited more variability in plasma and serum samples. Importantly, the combination of cel-miR-39 and miR-1228-3p was the most stable one. Moreover, we observed that miR-16-5p was significantly influenced by hemolysis in contrast with miR-1228-3p that exhibited no correlation with this confounding factor in both biofluids. Conclusion: MiR-1228-3p has been validated as an adequate endogenous control for circulating miRNA analysis in CRC and AA liquid biopsies.


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