Departamento de Patología, Instituto Nacional de Cancerología (INCan), Mexico City 14080, Mexico.
Departamento de Farmacología, Centro de Investigación y de Estudios Avanzados del I.P.N. (CINVESTAV), Avenida Instituto Politécnico Nacional No. 2508, Mexico City 07360, Mexico.
Int J Mol Sci. 2023 Jan 6;24(2):1092. doi: 10.3390/ijms24021092.
Bladder cancer (BC) is the most common neoplasm of the urinary tract, which originates in the epithelium that covers the inner surface of the bladder. The molecular BC profile has led to the development of different classifications of non-muscle invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC). However, the genomic BC landscape profile of the Mexican population, including NMIBC and MIBC, is unknown. In this study, we aimed to identify somatic single nucleotide variants (SNVs) and copy number variations (CNVs) in Mexican patients with BC and their associations with clinical and pathological characteristics. We retrospectively evaluated 37 patients treated between 2012 and 2021 at the National Cancer Institute-Mexico (INCan). DNA samples were obtained from paraffin-embedded tumor tissues and exome sequenced. Strelka2 and Lancet packages were used to identify SNVs and insertions or deletions. FACETS was used to determine CNVs. We found a high frequency of mutations in and , gains in 11q15.5 and 19p13.11-q12, and losses in 7q11.23. mutations and 1q11.23 deletions were also associated with NMIBC and low histologic grade.
膀胱癌（BC）是最常见的尿路肿瘤，起源于覆盖膀胱内表面的上皮。BC 的分子特征导致了非肌肉浸润性膀胱癌（NMIBC）和肌肉浸润性膀胱癌（MIBC）的不同分类。然而，包括 NMIBC 和 MIBC 在内的墨西哥人群的 BC 全基因组景观特征尚不清楚。在这项研究中，我们旨在鉴定墨西哥 BC 患者的体细胞单核苷酸变异（SNVs）和拷贝数变异（CNVs），并分析其与临床和病理特征的关系。我们回顾性评估了 2012 年至 2021 年间在墨西哥国家癌症研究所（INCan）治疗的 37 名患者。从石蜡包埋的肿瘤组织中获取 DNA 样本并进行外显子组测序。使用 Strelka2 和 Lancet 软件包识别 SNVs 和插入或缺失，使用 FACETS 软件确定 CNVs。我们发现 、 和 基因的突变频率较高，11q15.5 和 19p13.11-q12 基因的扩增，以及 7q11.23 基因的缺失。 突变和 1q11.23 缺失与 NMIBC 和低组织学分级有关。
