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1.
Chinese Journal of Cancer ; (12): 346-350, 2014.
Artigo em Inglês | WPRIM | ID: wpr-320516

RESUMO

As molecular targets continue to be identified and more targeted inhibitors are developed for personalized treatment of non-small cell lung cancer (NSCLC), multigene mutation determination will be needed for routine oncology practice and for clinical trials. In this study, we evaluated the sensitivity and specificity of multigene mutation testing by using the Snapshot assay in NSCLC. We retrospectively reviewed a cohort of 110 consecutive NSCLC specimens for which epidermal growth factor receptor (EGFR) mutation testing was performed between November 2011 and December 2011 using Sanger sequencing. Using the Snapshot assay, mutation statuses were detected for EGFR, Kirsten rate sarcoma viral oncogene homolog (KRAS), phosphoinositide-3-kinase catalytic alpha polypeptide (PIK3CA), v-Raf murine sarcoma viral oncogene homolog B1 (BRAF), v-ras neuroblastoma viral oncogene homolog (NRAS), dual specificity mitogen activated protein kinase kinase 1 (MEK1), phosphatase and tensin homolog (PTEN), and human epidermal growth factor receptor 2 (HER2) in patient specimens and cell line DNA. Snapshot data were compared to Sanger sequencing data. Of the 110 samples, 51 (46.4%) harbored at least one mutation. The mutation frequency in adenocarcinoma specimens was 55.6%, and the frequencies of EGFR, KRAS, PIK3CA, PTEN, and MEK1 mutations were 35.5%, 9.1%, 3.6%, 0.9%, and 0.9%, respectively. No mutation was found in the HER2, NRAS, or BRAF genes. Three of the 51 mutant samples harbored double mutations: two PIK3CA mutations coexisted with KRAS or EGFR mutations, and another KRAS mutation coexisted with a PTEN mutation. Among the 110 samples, 47 were surgical specimens, 60 were biopsy specimens, and 3 were cytological specimens; the corresponding mutation frequencies were 51.1%, 41.7%, and 66.7%, respectively (P = 0.532). Compared to Sanger sequencing, Snapshot specificity was 98.4% and sensitivity was 100% (positive predictive value, 97.9%; negative predictive value, 100%). The Snapshot assay is a sensitive and easily customized assay for multigene mutation testing in clinical practice.


Assuntos
Humanos , Adenocarcinoma , Genética , Carcinoma Pulmonar de Células não Pequenas , Genética , Classe I de Fosfatidilinositol 3-Quinases , Genes erbB-1 , Genes erbB-2 , Genes ras , Mutação , PTEN Fosfo-Hidrolase , Fosfatidilinositol 3-Quinases , Proteínas Proto-Oncogênicas , Proteínas Proto-Oncogênicas B-raf , Proteínas Proto-Oncogênicas p21(ras) , Estudos Retrospectivos , Proteínas ras
2.
Chinese Journal of Epidemiology ; (12): 1086-1089, 2010.
Artigo em Chinês | WPRIM | ID: wpr-341074

RESUMO

Objective To explore the development on infrastructure and professional contingence related to injury prevention and control, in China. Methods 38 Centers for Disease Control and Prevention(CDC)were investigated by using a self designed questionnaire and data was analyzed descriptively. Results At present, all the CDCs at provincial and city level had not set up a specific department related to injury prevention and control, except for Shanghai and Guangxi CDCs.The proportions of full-time and part-time staff in all of the investigated CDCs were 37.30% and 62.70% respectively. From 2005 to 2008, the proportions of CDC which had made funds more than 500 000 Yuan available on injury prevention and control were: 27.78% in the eastern areas, 28.58% in central and 7.69% in the western areas of China. There were 76.92% of the CDCs in the western areas of China that the invested funding was less than 100 000 Yuan in the past years. Most of the routine work that had been carried out in those CDCs were surveillance and public education programs including collection of data and special surveys related to injuries on children, adolescents and the elderly population. 44.44%, and 28.57% of the CDCs in the eastern and central parts of the country wished to establish a Department of injury prevention and control, while 76.92% of the CDCs in the western part expressed their strong request for professional training on injury. Conclusion China remained underdeveloped in the development of institutional and professional team working on injuries which called for, setting up related programs to suit the local needs. In accordance with the working condition, the progress that had been made and the objective demand on institutional and professional contingence of the problems in different areas,both short and medium terms on the issue,need to be put forward to develop both institutional and professional programs on injuries in the eastern, central, and western areas of China.

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