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1.
Artigo em Inglês | MEDLINE | ID: mdl-37944961

RESUMO

Background: Early detection of colorectal cancer (CRC) can lead to earlier diagnosis and intervention, thereby improving patient survival. Existing techniques fall short of clinical needs. Thus, early detection of CRC still needs a cost-effective, efficient, and widely accepted screening tool. Objective: This study aimed to evaluate the performance of a Multi-gene Methylation Detection Kit for Human Colorectal Cancer in a series of standards and clinical samples. Design/Outcome Measures: A series of DNA standards and 88 patients were included. According to the kit's instructions, a simplified multiplex quantitative polymerase chain reaction method was used to detect the methylation level of the samples. The accuracy, limit of detection, interference factors, sensitivity, and other performance parameters of the kit were studied. Results: Statistical analysis of the test results of all standards in the verification experiment showed that the positive and negative coincidence rates were 100%. The results for the kit's minimum detection limit and minimum nucleic acid input met the expected standards. The kit's sensitivity, specificity and accuracy were 89.36%, 97.56% and 93.18%, respectively for clinical samples. Conclusion: The Multi-gene Methylation Detection kit for Colorectal Cancer has a high detection performance for CRC, and this non-invasive, convenient and high-performance method for early detection of CRC may address current limitations in CRC screening and meet the clinical expectations.

2.
BMC Cancer ; 19(1): 777, 2019 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-31387567

RESUMO

BACKGROUND: Lung cancer in young patients is rare and has unique clinicopathological features. However, the molecular features of lung cancer in these patients are unclear. In this study, we aimed to describe the molecular features and outcomes of lung adenocarcinoma in patients aged ≤35 years. METHODS: A total of 89 patients aged ≤35 years with pathologically diagnosed lung adenocarcinoma were retrospectively evaluated. Mutations in 59 cancer-associated genes and fusions of ALK and ROS1 were analyzed to understand the molecular features of young patients with lung adenocarcinoma. The clinicopathological characteristics and prognosis of each patient were reviewed. RESULTS: Of the 89 young patients, 25 (28.1%) were male, 9 (10.1%) were smokers, and the median age was 32 years (range, 18-35 years). The authors analyzed 59 genes and a total of 6 mutations and 2 fusion genes were detected. These genes were distributed among 60 patients, 12 of which had two or more mutations. ERBB2 mutations were most common (24.7%), followed by EGFR mutation (21.3%), ALK fusion (16.9%), TP53 mutation (9.0%), BRAF mutation (3.4%), PIK3CA mutation (1.1%), CTNNB1 mutation (1.1%), and ROS1 fusion (1.1%). EGFR, ERBB2, and TP53 mutations, gene abnormalities, and ALK fusions all had significant correlations with histopathological differentiation (P < 0.01). ALK fusions and EGFR mutations conferred a significantly worse prognosis than did ERBB2 mutations and tumors that contained no mutations or fusions (P < 0.01). CONCLUSIONS: The molecular features of lung adenocarcinoma in young patients are different from those of common adenocarcinoma, and the main driver genes are closely correlated with tumor differentiation and prognosis.


Assuntos
Adenocarcinoma de Pulmão/genética , Biomarcadores Tumorais , Adenocarcinoma de Pulmão/diagnóstico , Adenocarcinoma de Pulmão/metabolismo , Adenocarcinoma de Pulmão/mortalidade , Adolescente , Adulto , Fatores Etários , Feminino , Perfilação da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Gradação de Tumores , Estadiamento de Neoplasias , Prognóstico , Proteínas Proto-Oncogênicas/genética , Fatores de Risco , Adulto Jovem
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