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Low frequency of PIK3CA gene mutations in hepatocellular carcinoma in Chinese population
Xun Li1, Quanbao Zhang, Wenting He
1The Second Department of General Surgery, The First Hospital of Lanzhou University, China.
Abstract:
PI3K/AKT constitutes an important pathway regulating the signaling of multiple biological processes and plays a critical role in carcinogenesis. PIK3CA gene missense mutations have been reported in many human cancer types. The mutation of it in hepatocellular carcinoma cases varies with different races and regions. In this study, we investigated PIK3CA mutation in Chinese hepatocellular carcinoma patients. A total 90 Chinese patients of hepatocellular carcinoma were recruited in this study. Exons 9 and 20 hotspots mutations of PIK3CA gene were detected by PCR-based DNA sequencing. Two point mutations (E542K and D549H) in exon 9 were found in only one patient (1/90; 1.11%), no mutation was found in exon 20 in any cases. 57 patients are associated with HBV infection (57/90; 63.3%), and 8 patients with HCV infection (8/90; 8.9%). The frequency of the PIK3CA mutations in hepatocellular carcinoma seems to be lower in Chinese hepatocellular carcinoma patients. These findings suggest that PI3K mutations may not play a major role in hepatic carcinogenesis in Chinese. HBV infection has close relationship with HCC in Chinese.
Insights
PIK3CA gene mutations are rare in Chinese hepatocellular carcinoma (HCC) patients, suggesting limited involvement in liver cancer development. Hepatitis B virus (HBV) infection remains a significant risk factor for HCC in this population.
Area of Science:
- Molecular Biology
- Oncology
- Hepatology
Background:
- The PI3K/AKT pathway is crucial in cell signaling and carcinogenesis.
- PIK3CA gene mutations are implicated in various human cancers.
- Hepatocellular carcinoma (HCC) development is influenced by genetic factors and viral infections, with regional variations in PIK3CA mutation frequencies.
Purpose of the Study:
- To investigate the frequency and spectrum of PIK3CA gene mutations in Chinese patients with hepatocellular carcinoma.
- To explore the potential role of PIK3CA mutations in the pathogenesis of HCC within the Chinese population.
- To examine the association between PIK3CA mutations, HBV, and HCV infections in Chinese HCC cases.
Main Methods:
- Recruitment of 90 Chinese patients diagnosed with hepatocellular carcinoma.
- Detection of hotspot mutations in exons 9 and 20 of the PIK3CA gene using PCR-based DNA sequencing.
- Analysis of patient data for co-infections with Hepatitis B virus (HBV) and Hepatitis C virus (HCV).
Main Results:
- A low frequency of PIK3CA mutations was observed, with only one patient (1.11%) harboring mutations (E542K and D549H) in exon 9; no mutations were detected in exon 20.
- Hepatitis B virus (HBV) infection was prevalent in 63.3% of patients (57/90), and Hepatitis C virus (HCV) infection in 8.9% (8/90).
- The overall incidence of PIK3CA mutations in Chinese HCC patients appears lower compared to other populations.
Conclusions:
- PIK3CA mutations may not be a major driver in the carcinogenesis of hepatocellular carcinoma among the Chinese population.
- Hepatocellular carcinoma in Chinese patients is strongly associated with Hepatitis B virus (HBV) infection.
- Further research may be warranted to explore other genetic alterations and etiological factors contributing to HCC in China.
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