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肝细胞癌患者中TP53和PIK3CA基因的突变与慢性血吸虫病有关。

Mutations in TP53 and PIK3CA genes in hepatocellular carcinoma patients are associated with chronic Schistosomiasis.

作者信息

AlGabbani Qwait

机构信息

Department of Biology, College of Sciences and Humanities, Prince Sattam Bin Abdulaziz University, Al-Kharj, Saudi Arabia.

出版信息

Saudi J Biol Sci. 2022 Feb;29(2):848-853. doi: 10.1016/j.sjbs.2021.10.022. Epub 2021 Oct 12.

Abstract

The purpose of this study was to evaluate the genetic variation of the PIK3CA gene and the histopathological changes in liver tissue of patients with chronic Schistosomiasis to predict hepatocellular carcinoma. In this retrospective, the study samples were taken from 20 patients, divided into chronic schistosomiasis infected group of people (S) and chronic schistosomiasis uninfected group of people (C). The liver tissue biopsy samples for histological examinations were obtained only from chronic Schistosomiasis patients ( = 9). The blood samples were obtained from groups S and C for the mutational analysis of the PIK3CA and TP53 genes. The results suggest that the patients diagnosed with chronic Schistosomiasis were 9 (55%), and healthy patients without Schistosomiasis were 11 (45%). Histological results found that proliferation of fibrosis was observed in the hepatocytes of schistosomiasis patients. A total of 8 mutations (5 male, 3 female) were detected in PIK3CA and TP53 genes. Including 1634 A > G substitution mutations in PIK3CA, which was the only mutation found in males and females among the 8 mutations, accounting 22.22%. PIK3CA gene mutations were found more predominant in male groups as compared to other TP53 gene mutations. In conclusion, this study found that patients with chronic Schistosomiasis are at risk of PIK3CA gene mutations, eventually leading to hepatocytes fibrosis and liver cancer.

摘要

本研究旨在评估慢性血吸虫病患者PIK3CA基因的遗传变异及肝组织的组织病理学变化,以预测肝细胞癌。在这项回顾性研究中,研究样本取自20名患者,分为慢性血吸虫病感染人群组(S)和慢性血吸虫病未感染人群组(C)。仅从慢性血吸虫病患者(n = 9)获取用于组织学检查的肝组织活检样本。从S组和C组获取血样用于PIK3CA和TP53基因的突变分析。结果显示,诊断为慢性血吸虫病的患者有9名(55%),无血吸虫病的健康患者有11名(45%)。组织学结果发现,血吸虫病患者的肝细胞中观察到纤维化增殖。在PIK3CA和TP53基因中总共检测到8个突变(5名男性,3名女性)。其中PIK3CA基因有1634 A>G替换突变,这是8个突变中男性和女性共有的唯一突变,占22.22%。与其他TP53基因突变相比,PIK3CA基因突变在男性组中更为常见。总之,本研究发现慢性血吸虫病患者存在PIK3CA基因突变的风险,最终导致肝细胞纤维化和肝癌。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/335c/8847977/273bda2b9e80/gr1.jpg

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