Abstract

You have accessJournal of UrologyCME1 Apr 2023PD04-03 GENETIC AND PATHWAY ALTERATIONS OF PROSTATE CANCER: FROM LOCALIZED TO METASTATIC PROSTATE CANCER Chang Eil Yoon, Seung Ah Rhew, Hyeok Jae Kwon, Dongho Shin, and Ji Youl Lee Chang Eil YoonChang Eil Yoon More articles by this author , Seung Ah RhewSeung Ah Rhew More articles by this author , Hyeok Jae KwonHyeok Jae Kwon More articles by this author , Dongho ShinDongho Shin More articles by this author , and Ji Youl LeeJi Youl Lee More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003228.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Although prostate cancer is one of the most commonly diagnosed male cancer, because of it’s heterogeneity the treatment options are limited and the prognosis varies widely. Recently, interest in genetic analysis and targeted therapy has been increasing. In particular, Mutation in DNA repair pathways, such as BRCA1/2 genes, has been found to be associated with poor prognosis. Accordingly, the purpose of this study was to identify genetic mutations in patients with localized and metastatic prostate cancer, and to analyze the association between these genes and each patient's clinical course. METHODS: We analyzed 74 patients diagnosed with prostate cancer. Tissue specimens were obtained from prostate biopsy or surgical excision, and were analyzed through Next-generation sequencing at Seoul St. Mary's Hospital between July 1, 2021 and September 31, 2022. We retrospectively evaluated baseline characteristics including PSA score, TNM staging, Gleason’s score and the clinical course including additional treatment and biochemical recurrence. RESULTS: The patients are classified as follows: 49 localized prostate cancer and 25 metastatic prostate cancer. The average age of the patients and initial PSA values were 69.8±8.4 years and 155.6±588.1 ng/dL. 8p copy number alteration (24.3%), and SPOP(18.9%), IGF2R (17.6%), BRCA2(12.2%), NOTCH2(10.8%) gene mutations were most frequently detected gene mutations. BRCA2, NOTCH2 mutations showed a significant relationships with high M stage (p=0.041, 0.001 respectively) and high Gleason's score. (p= 0.01, 0.043 respectively. KMT2C (associated with histone methyltransferase) and TP53 (known as Tumor suppressor gene) mutations also showed high frequency (21.6%, 13.5% respectively), with KMT2C frequently found in local prostate cancer (p=0.011) and TP53 frequently found in metastatic prostate cancer (p=0.046). Although the incidence was low, PI3K pathway aberrations including PTEN (4.1%) and PIK3CA (5.4%) gene mutation was identified. Both were associated with high Gleason’s score (p=0.002, 0.048 respectively). CONCLUSIONS: Through genetic analysis of prostate cancer, it was possible to analyze numerous gene mutations, and to find clinically significant mutations. Several genes, such as BRCA2, NOTCH2 and TP53 gene mutations have been found to be associated with advanced prostate cancer. The prognosis of prostate cancer can be predicted by genetic analysis, and the better prognosis can be expected through the application of a proper targeted therapy for each pathway alterations. Source of Funding: NA © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e143 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Chang Eil Yoon More articles by this author Seung Ah Rhew More articles by this author Hyeok Jae Kwon More articles by this author Dongho Shin More articles by this author Ji Youl Lee More articles by this author Expand All Advertisement PDF downloadLoading ...

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