来自C-CAT数据库的日本前列腺癌患者全国基因组数据分析

IF 3.1 2区 医学 Q2 ONCOLOGY
Cancer Medicine Pub Date : 2025-07-26 DOI:10.1002/cam4.71085
Shigehiro Tsukahara, Masaki Shiota, Shohei Nagakawa, Tokiyoshi Tanegashima, Satoshi Kobayashi, Takashi Matsumoto, Masatoshi Eto
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引用次数: 0

摘要

前列腺癌是男性的主要恶性肿瘤,已知基因组改变会影响疾病进展和治疗反应。然而,种族和民族差异可能会影响基因组图谱,因此需要针对特定人群进行分析。本研究旨在利用癌症基因组学和高级治疗中心(C-CAT)数据库的数据,描述日本治疗耐药、不可切除前列腺癌患者的基因组景观及其临床意义。方法:我们分析了2019年至2022年期间在标准治疗后进展并进行全面基因组分析的晚期或转移性前列腺癌患者的数据。我们评估了基因组改变的频率、肿瘤突变负担(TMB)和微卫星不稳定性(MSI)状态。还研究了基因组特征与临床结果之间的关系。结果共纳入2634例患者。前列腺癌的家族史为12.5%,乳腺癌为1.5%,胰腺癌为5.2%,卵巢癌为1.1%。18%的患者出现AR基因改变。TP53和BRCA2突变分别在34%和12%的病例中被发现。TP53的突变,以及与细胞周期、表观遗传调控、MYC信号传导和PI3K通路相关的基因的改变,与较差的总生存率相关。本研究提供了日本晚期前列腺癌患者基因组改变的全面概述,并确定了与预后相关的关键突变。这些发现强调了基于基因组分析的个性化预后评估的价值,以指导这一人群的临床决策。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Nationwide Genomic Data Analysis of Japanese Prostate Cancer Patients From C-CAT Database

Nationwide Genomic Data Analysis of Japanese Prostate Cancer Patients From C-CAT Database

Purpose

Prostate cancer is a leading malignancy among men, and genomic alterations are known to impact disease progression and treatment response. However, racial and ethnic differences may influence genomic profiles, necessitating population-specific analyses. This study aimed to characterize the genomic landscape and its clinical significance in Japanese patients with treatment-resistant, unresectable prostate cancer using data from the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database.

Methods

We analyzed data from patients with advanced or metastatic prostate cancer who had progressed after standard therapies and underwent comprehensive genomic profiling between 2019 and 2022. We assessed the frequency of genomic alterations, tumor mutation burden (TMB), and microsatellite instability (MSI) status. Associations between genomic features and clinical outcomes were also examined.

Results

A total of 2634 patients were included. Family history was reported in 12.5% for prostate cancer, 1.5% for breast cancer, 5.2% for pancreatic cancer, and 1.1% for ovarian cancer. AR gene alterations were observed in 18% of patients. TP53 and BRCA2 mutations were identified in 34% and 12% of cases, respectively. Mutations in TP53, as well as alterations in genes related to the cell cycle, epigenetic regulation, MYC signaling, and the PI3K pathway, were associated with poorer overall survival.

Conclusions

This study provides a comprehensive overview of genomic alterations in advanced prostate cancer among Japanese patients and identifies key mutations linked to prognosis. These findings highlight the value of personalized prognostic assessment based on genomic profiling to guide clinical decision-making in this population.

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来源期刊
Cancer Medicine
Cancer Medicine ONCOLOGY-
CiteScore
5.50
自引率
2.50%
发文量
907
审稿时长
19 weeks
期刊介绍: Cancer Medicine is a peer-reviewed, open access, interdisciplinary journal providing rapid publication of research from global biomedical researchers across the cancer sciences. The journal will consider submissions from all oncologic specialties, including, but not limited to, the following areas: Clinical Cancer Research Translational research ∙ clinical trials ∙ chemotherapy ∙ radiation therapy ∙ surgical therapy ∙ clinical observations ∙ clinical guidelines ∙ genetic consultation ∙ ethical considerations Cancer Biology: Molecular biology ∙ cellular biology ∙ molecular genetics ∙ genomics ∙ immunology ∙ epigenetics ∙ metabolic studies ∙ proteomics ∙ cytopathology ∙ carcinogenesis ∙ drug discovery and delivery. Cancer Prevention: Behavioral science ∙ psychosocial studies ∙ screening ∙ nutrition ∙ epidemiology and prevention ∙ community outreach. Bioinformatics: Gene expressions profiles ∙ gene regulation networks ∙ genome bioinformatics ∙ pathwayanalysis ∙ prognostic biomarkers. Cancer Medicine publishes original research articles, systematic reviews, meta-analyses, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented in the paper.
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