Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.
PMID 40901329 | PMCID PMC12400230 | DOI 10.5306/wjco.v16.i8.108865 · World journal of clinical oncology · 2025
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FAP | “BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “We performed next-generation sequencing and found mutations in the TP53, NRAS, EGFR PDGFR, MET, KIT, ERBB2, and GUSP genes.” | 0.98 | hgnc_dict_v1 |
| gene | NRAS | “We performed next-generation sequencing and found mutations in the TP53, NRAS, EGFR PDGFR, MET, KIT, ERBB2, and GUSP genes.” | 0.98 | hgnc_dict_v1 |
| gene | EGFR | “We performed next-generation sequencing and found mutations in the TP53, NRAS, EGFR PDGFR, MET, KIT, ERBB2, and GUSP genes.” | 0.98 | hgnc_dict_v1 |
| gene | ERBB2 | “We performed next-generation sequencing and found mutations in the TP53, NRAS, EGFR PDGFR, MET, KIT, ERBB2, and GUSP genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | colorectal cancer | “Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report. A 45-year-old Saudi man presented with intestinal obstruction and underwent a total colectomy. 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.” | 0.95 | saudi_context_rules_v1 |