Abstract
BackgroundHepatocellular carcinoma (HCC) is considered one of the most common cancers related to mortality around the world, and susceptibility is related with genetic, lifestyle, and environmental factors. Copy number variation of the Bcell CLL/lymphoma 9 (BCL9) gene is a type of structural variation which can influence gene expression and can be related with specific phenotypes and diseases and has a role in hepatocarcinogenesis. Our aims were to assess the copy number variation (CNV) in the BCL9 gene and explore its role in HCV-related HCC Egyptian patients. A total of 50 HCV-related HCC patients were enrolled in the study (including 25 early HCC and 25 late HCC cases); the copy number of the BCL9 gene was detected using quantitative polymerase reaction. ResultsThere was a highly statistically significant difference between the two groups (early and late HCC patients) in gender, bilharziasis, performance status, child score class, child grade, focal lesion size, portal vein, and ascites. CNV was detected and represented by the gain in the BCL9 gene in 14% of patients, and all of them were males. Also, it was noticed that the ratio of gain in BCL9 copy number in late individuals was about 1.5 times than that in early HCC individuals. Moreover, our results showed that the distribution of performance status > 1, average and enlarged liver, focal lesion size, thrombosed portal vein, and AFP was higher in patients with BCL9 copy number gain. ConclusionWe detected about 14% gain in BCL9 copy number in Egyptian HCC patients. But the variation in copy number of the BCL9 gene did not affect HCC development in our patients’ cohort.
Highlights
Hepatocellular carcinoma (HCC) is considered one of the most common cancers related to mortality around the world, and susceptibility is related with genetic, lifestyle, and environmental factors
Fifty percent of patients were at the early stage, and the other 50% were at the late stage, the majority of patients have child score class B, patent portal vein, and no ascites
It was found that all early HCC patients had no thrombosed portal vein (0.00%) and 92% of them had no ascites
Summary
Hepatocellular carcinoma (HCC) is considered one of the most common cancers related to mortality around the world, and susceptibility is related with genetic, lifestyle, and environmental factors. There are many risk factors in HCC development, which include [1] environmental factors such as hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, chemical compounds, alcohol, and smoking [2]; hostrelated risk factors such as gender, ethnicity, obesity, autoimmune hepatitis, diabetes, and non-alcoholic fatty liver disease (NAFLD) [3]; genetic-related factors such as the history of HCC, aflatoxins, and genetic alterations [5]. Both HBV and HCV increase HCC risk by 20-fold [6,7,8]. In Egypt, HCV is the most critical risk factor in liver cancer including HCC; about 21.4% of HCC individuals have a family history of HCC [9, 10]
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