Case report reveals specific mutations associated with colon cancer in a 45-year-old patient with familial adenomatous polyposis, highlighting important genetic factors.
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.
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Esheba et al. (2025) studied this question.
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