Detection of SMARCB1 gene mutations in Egyptian hepatocellular carcinoma patients using targeted next-generation sequencing: A pilot study

Marzok, Sara M; Elhamshary, Manal O; Shalan, Osama F; Talaat, Randa M.; Nasr, Mahmoud I; Sakr, Moustafa; Khalifa, Mohamed K; Ahmed, Ehab A; Nasr, Ghada M

doi:10.21608/rjab.2021.299278

Detection of SMARCB1 gene mutations in Egyptian hepatocellular carcinoma patients using targeted next-generation sequencing: A pilot study

Document Type : Original Article

Authors

¹ Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

² Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt.

³ Molecular Diagnostics and Therapeutics Department, Genetic Engineering & Biotechnology Research Institute (GEBRI), University of Sadat City (USC), Elsadat city, Egypt.

⁴ Department of Molecular Biology, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

⁵ Children Cancer Hospital, 57357, Egypt.

⁶ Chemistry department, Faculty of science, Cairo University, Egypt.

10.21608/rjab.2021.299278

Abstract

Background and objectives: Hepatocellular carcinoma (HCC) is the second most common type of cancer and has a significant mortality rate due to late identification. Although while early-stage cancer is becoming more curable, advanced forms of the disease have a poor prognosis because to a high probability of return. Understanding HCC's pathogenic process and its related genetic alterations is now crucial for effective treatment. This study aimed to detect the SMARCB1 mutations in HCC Egyptian patients using next-generation sequencing (NGS), and their relationships with clinicopathological traits were investigated.
Methods: This cross-sectional study involved 21 HCC Egyptian participants. Using NGS panel (AmpliSeq) containing the SMARCB1 gene.
Results: Among the HCC patients, the viral infections, hypertension and family history were reported as a risk factors for HCC with a significant association. As well as the clinicopathological features (ascites, portal vein invasion, metastasis and Child PUGH class) showed a significant association with HCC. The findings showed that the SMARCB1 gene had 31 single nucleotide variations (SNV), with an incidence of 86%. The alterations were distributed out in between deleterious, undefinable importance, and tolerated deviations, with missense variations (54.9%) accounting for the majority of the modifications. The clinicopathological characteristics and the SMARCB1 gene mutations did not significantly correlate.
Conclusion: This study concluded that the identification of various genetic variations in the SMARCB1 gene can aid in diagnosing and prognosis of HCC.

Keywords