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宫颈癌患者的基因变异及其与肿瘤临床和病理形态学特征的关联。

Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics.

作者信息

Golubickaite Ieva, Ugenskiene Rasa, Ziliene Egle, Beniusyte Jurgita, Inciura Arturas, Poskiene Lina, Juozaityte Elona

机构信息

Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.

Institute of Oncology, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.

出版信息

J Clin Med. 2021 Apr 23;10(9):1838. doi: 10.3390/jcm10091838.

Abstract

Cervical cancer is one of the most common cancers in women worldwide. Human papillomaviruses are known to be the main, but not the only risk factor, of this cancer type. Despite all the knowledge on this cancer type, it is still a challenge to predict the course of the disease, and therefore, minimally invasive biomarkers are needed. This study aimed to analyze single-nucleotide variants in the gene and assess the associations with tumor phenotype and patient outcome. A total of 172 cervical cancer patients were included in this study. Clinical and tumor data were gathered from medical records retrospectively. Single nucleotide variations were determined using TaqMan probes with Real-Time PCR. Significant associations between rs3087374 and cervical cancer patients' tumor histological type, stage, and tumor size were determined. The CA genotype and A allele of rs3087374 increased the probability of adenocarcinoma histological tumor type, IIIA stage, and T3 tumor size compared to CC genotype and C allele, respectively. Furthermore, patients with AA genotype in rs2072267 had longer metastasis-free survival than those with the GG genotype. Our data suggest that mitochondrial polymerase gamma encoded by nuclear gene is important for specific tumor phenotype formation and patient outcome in cervical cancer.

摘要

宫颈癌是全球女性中最常见的癌症之一。人乳头瘤病毒是已知的这种癌症类型的主要但并非唯一的风险因素。尽管对这种癌症类型已有诸多了解,但预测疾病进程仍是一项挑战,因此需要微创生物标志物。本研究旨在分析 基因中的单核苷酸变异,并评估其与肿瘤表型和患者预后的关联。本研究共纳入了 172 例宫颈癌患者。临床和肿瘤数据通过回顾医疗记录收集。使用 TaqMan 探针结合实时 PCR 确定单核苷酸变异。确定了 rs3087374 与宫颈癌患者肿瘤组织学类型、分期和肿瘤大小之间的显著关联。与 CC 基因型和 C 等位基因相比,rs3087374 的 CA 基因型和 A 等位基因分别增加了腺癌组织学肿瘤类型、IIIA 期和 T3 肿瘤大小的概率。此外,rs2072267 中 AA 基因型的患者无转移生存期比 GG 基因型的患者更长。我们的数据表明,由核基因编码的线粒体聚合酶γ对宫颈癌中特定肿瘤表型的形成和患者预后很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08d7/8123044/8b266a4b726e/jcm-10-01838-g001.jpg

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