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多参数磁共振成像引导下前列腺腺癌的个性化高分辨率基因诊断:一项初步研究的结果

Personalized High-Resolution Genetic Diagnostics of Prostate Adenocarcinoma Guided by Multiparametric Magnetic Resonance Imaging: Results of a Pilot Study.

作者信息

Wilkosz Jacek, Sobieraj Dariusz Wojciech, Kałużewski Tadeusz, Kaczmarek Jakub, Szwalski Jarosław, Bednarek Michał, Morel Agnieszka, Kasprzyk Żaneta, Kępczyński Łukasz, Sałamunia Jordan, Gach Agnieszka, Kałużewski Bogdan

机构信息

Second Department of Urology, Medical University of Lodz, 93-513 Lodz, Poland.

Department of General, Oncological, and Functional Urology, Copernicus Memorial Voivodship Multidisciplinary Centre for Oncology and Traumatology, Medical University of Lodz, 93-513 Lodz, Poland.

出版信息

Int J Mol Sci. 2025 Jun 12;26(12):5648. doi: 10.3390/ijms26125648.

Abstract

The upcoming wave of personalized medicine, driven by genomic diagnostics and artificial intelligence, demands clearly defined pre-laboratory and laboratory procedures to ensure the acquisition of DNA and RNA of sufficient quantity and quality. In prostate cancer oncogenetics, diagnostic and prognostic assessments increasingly rely on personalized approaches, including Comprehensive Genomic Profiling (CGP). In this pilot study, we aimed to establish optimal pre-analytical and analytical conditions for selected genetic diagnostic methods using tissue samples acquired through multiparametric MRI-guided biopsy. Tissue specimens from thirteen patients were processed for DNA isolation, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Comparative analyses were performed on DNA derived from both fresh and formalin-fixed, paraffin-embedded (FFPE) samples. Sequencing quality metrics demonstrated markedly superior performance in fresh tissue compared to FFPE. These results highlight the importance of standardized tissue collection and processing protocols to enable reliable molecular diagnostics in prostate cancer. Our findings support the feasibility of integrating high-quality genomic testing into routine biopsy workflows and emphasize the need for further large-scale validation.

摘要

由基因组诊断和人工智能驱动的个性化医疗的下一波浪潮,需要明确界定的实验室前和实验室程序,以确保获取足够数量和质量的DNA和RNA。在前列腺癌肿瘤遗传学中,诊断和预后评估越来越依赖于个性化方法,包括综合基因组分析(CGP)。在这项初步研究中,我们旨在为使用通过多参数MRI引导活检获取的组织样本的选定基因诊断方法建立最佳的分析前和分析条件。对13名患者的组织标本进行了DNA分离、荧光原位杂交(FISH)和下一代测序(NGS)处理。对来自新鲜和福尔马林固定、石蜡包埋(FFPE)样本的DNA进行了比较分析。测序质量指标表明,与FFPE相比,新鲜组织的性能明显更优。这些结果突出了标准化组织采集和处理方案对于在前列腺癌中实现可靠分子诊断的重要性。我们的研究结果支持将高质量基因组检测整合到常规活检工作流程中的可行性,并强调需要进一步进行大规模验证。

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