Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.

IF 3.2 Q3 ONCOLOGY

World journal of clinical oncology Pub Date : 2025-08-24 DOI:10.5306/wjco.v16.i8.108865

Ghada E Esheba, Hala Fm Kamel, Heba Mk Youssef, Hatoon Fm Badawood, Abdullah A Alshamrani, Rehab J Alharbi, Rami Nassir

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引用次数: 0

Abstract

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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沙特家族性腺瘤性息肉病进展为结肠癌的突变概况：1例报告。

背景：家族性腺瘤性息肉病（FAP）是一种常染色体显性综合征，由大肠腺瘤性息肉病基因的种系突变引起。它的特点是在生命的第二个十年中，结肠中数百个腺瘤的早期发展。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）。病例总结：我们提出了一例FAP发展为CRC的突变概况。一名45岁的沙特男子因肠梗阻接受了全结肠切除术。结肠显示数百个息肉及2个浸润性溃疡病变，经组织病理学证实为腺癌。我们进行了下一代测序，发现了TP53、NRAS、EGFR、PDGFR、MET、KIT、ERBB2和GUSP基因的突变。结论：据我们所知，本病例报告首次揭示了沙特阿拉伯FAP发展为结直肠癌的突变特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World journal of clinical oncology ONCOLOGY-

自引率

0.00%

发文量

585

期刊介绍： The WJCO is a high-quality, peer reviewed, open-access journal. The primary task of WJCO is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of oncology. In order to promote productive academic communication, the peer review process for the WJCO is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCO are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in oncology. Scope: Art of Oncology, Biology of Neoplasia, Breast Cancer, Cancer Prevention and Control, Cancer-Related Complications, Diagnosis in Oncology, Gastrointestinal Cancer, Genetic Testing For Cancer, Gynecologic Cancer, Head and Neck Cancer, Hematologic Malignancy, Lung Cancer, Melanoma, Molecular Oncology, Neurooncology, Palliative and Supportive Care, Pediatric Oncology, Surgical Oncology, Translational Oncology, and Urologic Oncology.