一名进展为结肠癌的沙特家族性腺瘤性息肉病患者的突变谱：病例报告
Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.
作者信息
Esheba Ghada E, Kamel Hala Fm, Youssef Heba Mk, Badawood Hatoon Fm, Alshamrani Abdullah A, Alharbi Rehab J, Nassir Rami
机构信息
Department of Histopathology, Security Forces Hospital, Makkah 24251, Saudi Arabia.
Department of Pathology, Faculty of Medicine, Tanta University, Tanta 31527, Al Gharbīyah, Egypt.
出版信息
World J Clin Oncol. 2025 Aug 24;16(8):108865. doi: 10.5306/wjco.v16.i8.108865.
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 and 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.
背景
家族性腺瘤性息肉病（FAP）是一种常染色体显性综合征，由腺瘤性息肉病大肠杆菌基因的种系突变引起。其特征是在生命的第二个十年期间结肠中早期出现数百个腺瘤。如果不进行预防性结肠切除术，大多数患者最终会发展为结直肠癌（CRC）。
病例摘要
我们展示了一例进展为CRC的FAP病例的突变谱。一名45岁的沙特男子因肠梗阻就诊并接受了全结肠切除术。结肠显示有数百个息肉和两个浸润性溃疡性病变，根据组织病理学证实为腺癌。我们进行了下一代测序，发现了 和 基因中的突变。
结论
据我们所知，本病例报告首次揭示了沙特阿拉伯进展为CRC的FAP的突变谱。
Zotero 插件