MP06-13 MALBAC-BASED WHOLE GENOME ABNORMALITY SCORE (WGAS): A NEW CONCEPT TECHNIQUE SHOWS ITS POTENTIAL IN NON-INVASIVE DIAGNOSIS OF BLADDER CANCER

Abstract

You have accessJournal of UrologyBladder Cancer: Epidemiology & Evaluation I1 Apr 2018MP06-13 MALBAC-BASED WHOLE GENOME ABNORMALITY SCORE (WGAS): A NEW CONCEPT TECHNIQUE SHOWS ITS POTENTIAL IN NON-INVASIVE DIAGNOSIS OF BLADDER CANCER Hao Liu, Tianxin Lin, Nengtai Ouyang, Sijia Lu, and Jian Huang Hao LiuHao Liu More articles by this author , Tianxin LinTianxin Lin More articles by this author , Nengtai OuyangNengtai Ouyang More articles by this author , Sijia LuSijia Lu More articles by this author , and Jian HuangJian Huang More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2018.02.205AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Bladder cancer is a prevalent malignancy in the world. To improve the quality of life and prognosis of bladder cancer patients, accurate early-stage diagnosis is fundamental. Voided urine is regarded as one of the most important medium for non-invasive diagnosis of bladder cancer, but the efficacy varies in different techniques. Recent reports indicated bladder cancer has multiple gene mutations, so high throughput genome sequencing on urine sediment may provide a promising diagnosis and monitoring method for bladder cancer. Previously we developed a MALBAC-NGS based non-invasive technique called whole genome abnormality score (WGAS) and showed its good sensitivity and specificity in detecting bladder cancer regardless of tumor stages and grades. The aim of the present study is to investigate the feasibility to simplify experimental process as well as validate the performance in different population. METHODS Voided urine was collected from 65 patients with bladder tumor and 45 healthy volunteers to plot the ROC. Voided urine from additional 130 bladder cancer patients were collected for validation purpose. DNA from urine sediments and tumor tissues was extracted. Detection of whole genome abnormality score (WGAS) were performed using MALBAC-lab kit to prepare NGS Library and the next generation sequencing using a fast-run mode on Hiseq 2500 (Illumina, U.S.A.). Whole genome abnormality score (WGAS) was calculated by WGAS algorithm based on relative reads number (RRN) of each 1M bin. uFISH was conducted in 86 bladder cancer patients to compare WGAS performance. RESULTS An AUC of 0.967 (95% 0.94-0.994) was observed in the training group. A cut-off value of 65 was defined which generated a sensitivity of 89.23% and a specificity of 86.67%. In the 130 patients of validation group, the sensitivity was observed to be 91.5%. Moreover, the sensitivity did not differed significantly among different tumor stages and grades. Compared to FISH, WGAS exhibited superior sensitivity especially in Ta and LG patients. CONCLUSIONS This novel protocol is objective and promising, as it not only provides high sensitivity and specificity on detection of the bladder cancer, but also reflects genetic changes which may provide prognostic information and change the therapeutic strategy. © 2018FiguresReferencesRelatedDetails Volume 199Issue 4SApril 2018Page: e56-e57 Advertisement Copyright & Permissions© 2018MetricsAuthor Information Hao Liu More articles by this author Tianxin Lin More articles by this author Nengtai Ouyang More articles by this author Sijia Lu More articles by this author Jian Huang More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...