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ACG Case Rep J. 2020 Oct 26;7(10):e00469. doi: 10.14309/crj.0000000000000469. eCollection 2020 Oct.
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本文引用的文献

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Natural history of colonic polyposis in young patients with familial adenomatous polyposis.家族性腺瘤性息肉病年轻患者的结直肠息肉自然史。
Gastrointest Endosc. 2018 Oct;88(4):726-733. doi: 10.1016/j.gie.2018.05.021. Epub 2018 Jun 2.
2
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.ACG 临床指南：遗传性胃肠道癌综合征的基因检测与管理。
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Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.家族性腺瘤性息肉病的外科治疗：困境与当前建议
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The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes.家族性腺瘤性息肉病综合征的自然史：单中心 24 年筛查、诊断和结局的回顾。
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Progression to advanced neoplasia is infrequent in post colectomy familial adenomatous polyposis patients under endoscopic surveillance.在接受内镜监测的结肠切除术后家族性腺瘤性息肉病患者中，进展为晚期肿瘤的情况并不常见。
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Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.APC基因变异位点与家族性腺瘤性息肉病（FAP）表型之间的相关性：文献综述
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一名家族性腺瘤性息肉病患者出现快速直肠息肉病进展

Rapid Rectal Polyposis Development in a Patient With Familial Adenomatous Polyposis.

作者信息

Abrams Hannah R, Lee Michelle, Dahdal Sami, Khalaf Natalia

机构信息

Department of Internal Medicine, Baylor College of Medicine, Houston, TX.

Department of Internal Medicine, St. John's Riverside Hospital, Yonkers, NY.

出版信息

ACG Case Rep J. 2020 Oct 26;7(10):e00469. doi: 10.14309/crj.0000000000000469. eCollection 2020 Oct.

DOI:10.14309/crj.0000000000000469
PMID:33134403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7591113/
Abstract

Familial adenomatous polyposis (FAP) is a well-described genetic condition that results in the development of multiple benign and malignant lesions throughout the gastrointestinal tract. The development of colorectal cancer is nearly universal in classic FAP, and total proctocolectomy after polyp development is recommended. We present a patient with FAP who was unable to undergo proctectomy. Despite careful removal of all rectal polyps before subtotal colectomy with ileorectal anastomosis, he developed 12 rectal polyps, including 4 advanced neoplastic lesions, within 73 days after initial endoscopic removal. This case highlights the rapid regrowth rate of colorectal adenomas in FAP.

摘要

家族性腺瘤性息肉病（FAP）是一种已被充分描述的遗传性疾病，可导致整个胃肠道出现多个良性和恶性病变。在典型的FAP中，结直肠癌的发生几乎是普遍现象，息肉形成后建议行全直肠结肠切除术。我们报告了一名患有FAP的患者，他无法接受直肠切除术。尽管在进行回肠直肠吻合术的次全结肠切除术之前仔细切除了所有直肠息肉，但在初次内镜切除后的73天内，他又长出了12个直肠息肉，其中包括4个高级别肿瘤性病变。该病例突出了FAP中结直肠腺瘤的快速复发率。