MUTATIONAL ANALYSIS OF BRAF GENE IN EGYPTIAN HEP ATOCELLULAR CARCINOMA PATIENTS USING NGS

Authors

  • AMAL SAAD ABD EL WAHAAB Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • GHADA M. NASR epartment of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • MOHAMED OMAN ABD EL-FATAH Department of Molecular Biology, Genetic Engineering and Biotechnology Research Insti- tute, University of Sadat City
  • MOFEDA ABD EL-SALAM KESHK Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • RANDA M. TALAAT Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • MUSTAFA A. SAKR Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • MOHAMED K. KHALIFA Children Cancer Hospital, 57357
  • EHAB A. AHMED Chemistry Department, Faculty of Science, Cairo University
  • ABDEL RAHMAN A. ABDEL RAHMAN Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • OSAMA MEGAHED Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City
  • MANAL O. EL HAMSHARY Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnol- ogy Research Institute, University of Sadat City

Abstract

Limitations: Found no evidence of portal vein invasion but did associate BRAF mutation to hypertension. Larger tumors tend to have more BRAF mutations. More research, including whole exome sequencing, is required to provide a complete explanation for the genetic changes seen in HCC. The use of NGS led to the discovery of several unique gene mutations in HCC, including both confirmed and disproven mutations. The origin and progression of HCC are best understood because of these findings, which offer new views. Larger patient cohorts are required to fully comprehend BRAF genetic alteration and its impact on the development of HCC.

References

Becker A. K., Tso D. K., Harris A. C., Malfair D. and Chang, S. D. (2014). extrahepatic metastases of hepatocellular carcinoma: a spectrum of imaging findings. can assoc radiol j., 65: 60-6.

Braunwarth E., Rumpf B., Primavesi F., Pereyra D., Hochleitner M., Göbel G., Gasteiger S., Gehwolf P., Öfner D., Starlinger P. and Stättner S. (2020). sex differences in disease presentation, surgical and oncological outcome of liver resection for primary and metastatic liver tumors-a retrospective multicenter study. Plos One, 15: 43-53.

Caruso S., Calderaro J., Letouzé E., Nault J. C., Couchy G., Boulai A., Luciani A., Zafrani E. S., Bioulac-Sage P., Seror O., Imbeaud S. and Zucman-Rossi J. (2017). germline and somatic dicer1 mutations in familial and sporadic liver tumors. J. Hepatol, 66: 734-42.

Colombino M., Sperlongano P., Izzo F., Tatangelo F., Botti G., Lombardi A., Accardo M., Tarantino L., Sordelli I., Agresti M., Abbruzzese A., Caraglia M. and Palmieri G. (2012). braf and pik3ca genes are somatically mutated in hepatocellular carcinoma among patients from south italy. Cell Death and Disease, 3: e259-e259.

Gnoni A., Licchetta A., Memeo R., Argentiero A., Solimando A. G., Longo V., Delcuratolo S. and Brunetti O. (2019). role of braf in hepatocellular carcinoma: a rationale for future targeted cancer therapies. Medicina (kaunas), 55: 15-32.

Haines K., Sarabia S. F., Alvarez K. R., Tomlinson G., Vasudevan S. A., Heczey A. A., Roy A., Finegold M. J., Parsons D. W. and Plon S. E. (2019). characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation. Pediatric Blood and Cancer, 66: e27745.

Hassan-Kadle M. A., Osman M. M., Keles E., Eker H. H., Baydili K. N., Ahmed H. M. and Osman A. A. (2022). clinical characteristics of patients with hepatocellular carcinoma: a single-center 3-year experience from somalia. int. J. Hepatol, 20: 33-70.

Hsu C.-Y., Lee, Y.-H., Huang Y.-H., Hsia C.-Y., Su C.-W., Lin H.-C., Lee R.-C., Chiou Y.-Y., Lee F.-Y., Huo T.-I. and Lee S.-D. (2013). ascites in patients with hepatocellular carcinoma: prevalence, associated factors, prognostic impact, and staging strategy. Hepatology International, 7: 188-98.

Huang Y., Jia W., Zhao G., Zhao Y., Zhang S., Li Z. and Wu G. (2024). clinical features and mutation analysis of class 1/2/3 braf mutation colorectal cancer. Chinese Clinical Oncology, cco-23.

Li C. L., Lin Y. K., Chen H. A., Huang C. Y., Huang M. T. and Chang Y. J. (2019). smoking as an independent risk factor for hepatocellular carcinoma due to the α7-nachr modulating the jak2/stat3 signaling axis. J. Clin Med, 8: 45-63.

Li X., Wang X. and Gao P. (2017). diabetes mellitus and risk of hepatocellular carcinoma. Biomed Res. Int., 20: 52-68.

Lim S. H., Jung J., Hong J. Y., Kim S. T., Park S. H., Park J. O., Kim K.-M. and Lee J. (2023). prevalence of raf1 aberrations in metastatic cancer patients: Real-World Data. Biomedicines, 11: 3264.

Loomba R., Liu J., Yang H. I., Lee M. H., Lu S. N., Wang L. Y., Iloeje U. H., You S. L., Brenner D. and Chen C. J. (2013). synergistic effects of family history of hepatocellular carcinoma and hepatitis b virus infection on risk for incident hepatocellular carcinoma. Clin Gastroenterol Hepatol, 11: 1636-45.

Lopez-Lopez V., Gomez Ruiz A., Lopez- Conesa A., Brusadin R., Cayuela V., Caballero-Illanes A., Torres M. and Robles Campos R. (2020). effects of primary hypertension treatment in the oncological outcomes of hepatocellular carcinoma. Ann. Transl Med, 8: 84-93.

Mak D. and Kramvis A.(2021). epidemiology and aetiology of hepatocellular carcinoma in sub- saharan africa. Hepatoma Res., 7: 26-33.

Mohamed A. A., Elbedewy T. A., El- Serafy M., El-Toukhy N., Ahmed W. and Ali El Din Z. (2015). hepatitis c virus: a global view. World J. Hepatol, 7: 2676-80.

Pope B. J., Clendenning M., Rosty C., Mahmood K., Georgeson P., Joo J. E., Walker R., Hutchinson R. A., Jayasekara H., Joseland S., Como J., Preston S., Spurdle A. B., Macrae F. A., Win A. K., Hopper J. L., Jenkins M. A., Winship I. M. and Buchanan D. D. (2021). germline and tumor sequencing as a diagnostic tool to resolve suspected lynch syndrome. J. Mol. Diagn, 23: 358-71.

Ramadan A., El Ebidy G., Elzaafarany M., Galal A., Ibrahem M. and Ali D. M. (2021). characterization of hepatocellular carcinoma in mansoura university hospitals: a case-control study of risk factors. Medical Journal of Viral Hepatitis, 6: 38-45.

Rashed W. M., Kandeil M. A. M., Mahmoud M. O. and Ezzat S. (2020). hepatocellular carcinoma (hcc) in egypt: a comprehensive overview. J. Egypt Natl Canc Inst, 32: 52-60.

Rich N. E., Murphy C. C., Yopp A. C., Tiro J., Marrero J. A. and Singal A. G. (2020). sex disparities in presentation and prognosis of 1110 patients with hepatocellular carcinoma. Aliment Pharmacol Ther, 52: 701-9.

Russo F. P., Zanetto A., Pinto E., Battistella S., Penzo, B., Burra P. and Farinati F. (2022). hepatocellular carcinoma in chronic viral hepatitis: where do we stand? Int. J. Mol. Sci., 23: 12- 52.

Shehta A., Farouk A., Elghawalby A. N., Elshobary M., Aboelenin A., Fouad, A. and Ali M. A. (2021). outcomes of hepatic resection for hepatocellular carcinoma associated with portal vein invasion. Journal of Surgical Research, 26: 269-83.

Tannapfel A., Sommerer F., Benicke M., Katalinic A., Uhlmann D., Witzigmann H., Hauss J. and Wittekind C. (2003). mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. Gut, 52: 706-12.

Zhang J., Chen G., Zhang P., Zhang J., Li X., Gan D., Cao X., Han M., Du H. and Ye Y. (2020). the threshold of alpha-fetoprotein (afp) for the diagnosis of hepatocellular carcinoma: a systematic review and meta-analysis. Plos One, 15: 28-85.

Zhao S., Wang M., Yang Z., Tan K., Zheng D., Du X. and Liu L. (2020). comparison between child- pugh score and albumin-bilirubin grade in the prognosis of patients with hcc after liver resection using time-dependent roc. Ann. Transl Med, 8: 53-9.

Downloads

Published

2024-07-08

Issue

Vol. 53 No. 1 (2024)

Section

Articles

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Most read articles by the same author(s)