©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report
Ghada E Esheba, Hala FM Kamel, Heba MK Youssef, Hatoon FM Badawood, Abdullah A Alshamrani, Rehab J Alharbi, Rami Nassir
Ghada E Esheba, Hatoon FM Badawood, Abdullah A Alshamrani, Department of Histopathology, Security Forces Hospital, Makkah 24251, Saudi Arabia
Ghada E Esheba, Heba MK Youssef, Department of Pathology, Faculty of Medicine, Tanta University, Tanta 31527, Al Gharbīyah, Egypt
Hala FM Kamel, Department of Biochemistry, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia
Hala FM Kamel, Department of Medical Biochemistry and Molecular Biology, Ain Shams University Faculty of Medicine, Cairo 11381, Egypt
Rehab J Alharbi, Clinical Laboratories Sciences, College of Applied Medical Sciences, University of Hafr Al Batin, Hafr Al Batin 39524, Saudi Arabia
Rami Nassir, Department of Pathology, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia
Author contributions: Esheba GE and Nassir R designed the research study, performed the research, interpreted the results, wrote the manuscript; Kamel HFM, Youssef HMK, Badawood HFM, Alshamrani AA, and Alharbi RJ performed data collection and revised the manuscript; and all authors thoroughly reviewed and endorsed the final manuscript.
Informed consent statement: We have an informed consent signed by the patient. The authors obtained written consent from patients for their medical information to be published in print and online and with the understanding that this information may be publicly available.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Ghada E Esheba, Consultant, Full Professor, Department of Histopathology, Security Forces Hospital, Mecca-Al-Taif/Route, Makkah 24251, Saudi Arabia.
gesheba@sfhm.med.sa
Received: May 6, 2025
Revised: May 22, 2025
Accepted: July 1, 2025
Published online: August 24, 2025
Processing time: 111 Days and 1 Hours
BACKGROUND
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene. It is characterized by the early development of hundreds of adenomas in the colon during the second decade of life. If prophylactic colectomy is not performed, most patients eventually develop colorectal cancer (CRC).
CASE SUMMARY
We present the mutational profile of a case of FAP that progressed to CRC. A 45-year-old Saudi man presented with intestinal obstruction and underwent a total colectomy. The colon showed hundreds of polyps and two infiltrative ulcerative lesions, which proved to be adenocarcinoma according to histopathology. We performed next-generation sequencing and found mutations in the TP53, NRAS, EGFR PDGFR, MET, KIT, ERBB2, and GUSP genes.
CONCLUSION
To the best of our knowledge, this case report is the first to sheds the light on the mutation profile of FAP that progressed to CRC in Saudi Arabia.
Core Tip: This case report is the first to highlight the mutation profile of a patient with familial adenomatous polyposis that progressed to colon cancer using next-generation sequencing in Saudi Arabia. The findings provide valuable insight into the genetic landscape of familial adenomatous polyposis-related colorectal cancer in the region. This information may have important prognostic significance and could guide future therapeutic strategies, potentially improving personalized treatment approaches for patients with similar genetic backgrounds.
