PD46-02 OPTICAL GENOME MAPPING IDENTIFIES CLINICALLY RELEVANT GENOMIC REARRANGEMENTS IN PROSTATE CANCER BIOPSY SAMPLE (2022)

You have accessJournal of UrologyCME1 May 2022PD46-02 OPTICAL GENOME MAPPING IDENTIFIES CLINICALLY RELEVANT GENOMIC REARRANGEMENTS IN PROSTATE CANCER BIOPSY SAMPLE Jong Su Lee, Yeeun Shim, Jieun Seo, Hyunho Han, Young Deuk Choi, Cheol Keun Park, Saeam Shin, Seung-Tae Lee, and Jong Rak Choi Jong Su LeeJong Su Lee More articles by this author , Yeeun ShimYeeun Shim More articles by this author , Jieun SeoJieun Seo More articles by this author , Hyunho HanHyunho Han More articles by this author , Young Deuk ChoiYoung Deuk Choi More articles by this author , Cheol Keun ParkCheol Keun Park More articles by this author , Saeam ShinSaeam Shin More articles by this author , Seung-Tae LeeSeung-Tae Lee More articles by this author , and Jong Rak ChoiJong Rak Choi More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002614.02AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Prostate cancer (PCa) is characterized by complex genomic rearrangements such as the ETS oncogene family fusions, yet the clinical relevance is not well established. While paneled genetic tests of DNA repair genes are recommended in advanced PCa, conventional genomic or cytogenetic tools are not ideal for genome-wide screening of structural variations (SVs) such as balanced translocation due to cost and/or resolution issues. METHODS: In this study, we tested the feasibility of whole-genome optical genomic mapping (OGM), a newly developed platform for genome-wide SV analysis to detect complex genomic rearrangements in consecutive unselected PCa samples from MRI/US-fusion targeted biopsy. RESULTS: We tested ten samples, and nine (90%) passed quality check. Average mapping rate and coverage depth were 58.1±23.7% and 157.3±97.7×, respectively (mean±SD). OGM detected copy number alterations such as chr6q13 loss and chr8q12-24 gain. Two adjacent tumor samples were distinguished by inter/intra-chromosomal translocations, revealing that they’re from the same ancestor. Furthermore, OGM detected large deletion of chr13q13.1 accompanied by inter-chromosomal translocation t(13;20)(q13.1;p13) occurring within BRCA2 gene, suggesting complete loss of function. In conclusion, clinically relevant genomic SVs were successfully detected in PCa samples by OGM. CONCLUSIONS: We suggest that OGM can complement panel sequencing of DNA repair genes BRCA1/2 or ATM in high-risk PCa. Source of Funding: NA © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e788 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Jong Su Lee More articles by this author Yeeun Shim More articles by this author Jieun Seo More articles by this author Hyunho Han More articles by this author Young Deuk Choi More articles by this author Cheol Keun Park More articles by this author Saeam Shin More articles by this author Seung-Tae Lee More articles by this author Jong Rak Choi More articles by this author Expand All Advertisement PDF DownloadLoading ...