RESUMO
Objective: To investigate the value of stool-based methylated SDC2 test in physical examination population for the screening of colorectal neoplasms. Methods: Using the prospective cohort study method, from December 2020 to November 2021, 2 107 participants from the First People's Hospital of Xiushui County, Jiangxi Province were enrolled, consisted of 1 012 males and 1 094 females, aged 20-90 years with the median age of 49 years old. Fresh stool samples were collected and SDC2 DNA methylation tests were carried out as the primary screening method. The participants with positive results were recommended to undergo colonoscopy, and those who were negative were followed up by telephone. The positive rate of screening, the compliance of colonoscopy, and the detection of colorectal lesions were analyzed by chi-square test. Combined the follow-up results of negative subjects, the value of SDC2 DNA methylation test for the screening of colorectal neoplasms was evaluated. Results: Among the 2 107 participants, 2 106 completed the SDC2 methylation test. 113 participants (5.4%) were positive. The positive rate of primary screening increased with age significantly (χ2=32.135, P<0.001). Out of 113 cases, 72 (63.7%) underwent colonoscopy examinations. Finally, 3 (4.2%) cases of colorectal cancer, 12 (16.7%) cases of advanced adenoma, 31 (43.1%) cases of non-advanced adenoma, and 16 (22.2%) cases of non-adenomatous polyp were detected. The positive predictive value (PPV) of stool-based SDC2 DNA methylation test for intestinal lesions and colorectal neoplasms were 86.1% and 63.9%, respectively. Among the 1 374 follow-up participants, the negative predictive value (NPV) of this test for intestinal lesions and colorectal neoplasms were 97.7% and 99.4%, respectively. Conclusion: Primary stool-based SDC2 DNA methylation test and subsequent colonoscopy examination can effectively find colorectal neoplasms. This strategy may be a potential tool for the screening of colorectal neoplasms in general risk population.
Assuntos
Neoplasias Colorretais , Detecção Precoce de Câncer , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Colonoscopia , Neoplasias Colorretais/diagnóstico , Metilação de DNA , Detecção Precoce de Câncer/métodos , Fezes , Programas de Rastreamento/métodos , Exame Físico , Estudos Prospectivos , Sensibilidade e Especificidade , Sindecana-2/genética , Adulto Jovem , Adulto , Idoso , Idoso de 80 Anos ou maisRESUMO
We conducted a cohort study to investigate whether 3 potential single nucleotide polymorphisms (SNPs) in the xeroderma pigmentosum complementation group G (XPG) gene could predict the survival of advanced non-small cell lung cancer (NSCLC) patients treated with platinum-based doublet chemotherapy. We enrolled 262 patients with histologically confirmed NSCLC between November 2007 and December 2008 in this study. The 3 SNPs (rs2296147T>C, rs2094258C>T, and rs873601G>A) were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. Older age, Eastern Cooperative Oncology Group performance score ≥2 and higher disease stage were associated with shorter survival. In the Cox proportional hazard model, patients carrying the rs2296147 TT genotype and the T allele had a significantly reduced risk of developing progressive disease or dying from NSCLC. The HRs (95%CI) were 0.31 (0.13-0.73) and 0.44 (0.24-0.83) for progression-free survival and 0.32 (0.14-0.71) and 0.54 (0.32-0.98) for overall survival, respectively. Moreover, advanced NSCLC patients carrying the rs2094258 GG and the G allele had a significantly decreased risk of developing progressive disease. The HRs (95%CI) for the rs2094258 GG genotype and the G allele were 0.35 (0.16-0.80) and 0.45 (0.23-0.86) for overall survival, respectively. We suggest that the rs2296147 and rs2094258 polymorphisms could be used as surrogate markers, leading to individualization of NSCLC treatment strategies.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/genética , Proteínas de Ligação a DNA/genética , Endonucleases/genética , Estudos de Associação Genética , Neoplasias Pulmonares/genética , Proteínas Nucleares/genética , Platina/uso terapêutico , Polimorfismo de Nucleotídeo Único/genética , Fatores de Transcrição/genética , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Demografia , Intervalo Livre de Doença , Feminino , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
We investigate the potential association of miR-149C>T and miR-499A>G polymorphisms and the risk of hepatocellular carcinoma (HCC). A matched case-control study of 152 cases and 304 controls were conducted. The miR-149C>T and miR-499A>G genotypes were analyzed using duplex polymerase chain reaction with restricted fragment length polymorphism. HCC patients were more likely to be smokers and drinkers, have hepatitis B and C virus infections, and a family history of cancer. The miR-149 CC genotype was associated with a reduced risk of HCC, while the miR-499 GG genotype was associated with an increased risk of HCC. However, we did not find that the miR-149 CC and miR-499 GG genotypes were associated with risk of HCC, and no interaction was found between miR-149C>T and miR-499A>G polymorphisms and hepatitis B virus infection. In conclusion, the miRNA-149C>T and miR-499A>G polymorphisms were found to play an important role for HCC risk in China. This finding could be useful in identifying people at high risk for the disease for early intervention.