Abstract

Abstract Epigenetic alterations have emerged as a common hallmark of many types of human cancers including lung cancers. Therefore, detection of aberrant DNA methylation from blood samples may be a promising diagnostic tool for cancers. We have been developing a highly sensitive plasma-based approach to detect aberrant DNA methylation in lung cancer patients. First, we identified seven markers from genome-wide methylation analysis, which can diagnose lung cancer in tissue samples with high accuracy (sensitivity, 91%; specificity, 100%). Next, we evaluated DNA methylation status in tissue samples and corresponding plasma samples in each patient using pyrosequencing analysis and qMSP. However, DNA methylation status between tissue and plasma samples were not concordant by both methods (pyrosequencing, 0/19 cases; qMSP, 3/9 cases). Given the concentration of DNA in plasma originated from cancerous tissue might theoretically be very low, we need to use more sensitive and accurate methods. We used digital PCR and next generation sequencer to analyze the methylation status of plasma DNA. These methods are both highly sensitive. Now we invent a new technology using specific probes, which can recognize sequence information including methylated cytosine even in one DNA molecule. This new technology might be applicable as a practical tool for lung cancer diagnosis. Citation Format: Keiko Shinjo, Eisaku Kondo, Yutaka Kondo. New technology to detect DNA methylation in plasma sample from lung cancer patients. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 416. doi:10.1158/1538-7445.AM2014-416

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