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家族性息肉病与结肠癌

Familial Polyposis and Colon Cancer.

作者信息

Jain Amit Kumar, Parikh Purvish M, Dadhich Subash Chandra, Arora Anil, Kumar Mandhir, Ranjan Piyush, Bansal Naresh Kumar, Sharma Praveen, Aggarwal Shyam, Selvasekar C, Rawat Saumitra

机构信息

Department of Medical Oncology, Jain Hospital, Bengaluru, Karnataka, India.

Department of Clinical Hematology, Sri Ram Cancer Center, Mahatma Gandhi University of Medical Sciences and Technology, Jaipur, India.

出版信息

South Asian J Cancer. 2025 Jan 28;13(4):305-308. doi: 10.1055/s-0045-1802333. eCollection 2024 Oct.

DOI:10.1055/s-0045-1802333
PMID:40060355
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11888798/
Abstract

Familial adenomatous polyposis is an important hereditary risk factor for colon cancer. Such patients and families need special attention for prevention, early detection, and optimal treatment. Molecular testing is key to identify the specific mutation in the proband and can then make it easier to identify other family members at risk. Aggressive surveillance and colonoscopy will be indicated in most patients. Both colonic and extra-colonic manifestations are important. Chemoprevention is worth considering. Almost all patients will ultimately need colectomy. These details will be discussed in this review.

摘要

家族性腺瘤性息肉病是结肠癌的一个重要遗传风险因素。此类患者及其家族在预防、早期检测和最佳治疗方面需要特别关注。分子检测是识别先证者特定突变的关键,进而便于识别其他有风险的家庭成员。大多数患者需要积极监测和结肠镜检查。结肠和结肠外表现都很重要。化学预防值得考虑。几乎所有患者最终都需要进行结肠切除术。这些细节将在本综述中讨论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e798/11888798/d2400dc5acfb/10-1055-s-0045-1802333-i2440010-authorphoto.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e798/11888798/d2400dc5acfb/10-1055-s-0045-1802333-i2440010-authorphoto.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e798/11888798/d2400dc5acfb/10-1055-s-0045-1802333-i2440010-authorphoto.jpg

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本文引用的文献

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Immune Microenvironment: New Insight for Familial Adenomatous Polyposis.免疫微环境:家族性腺瘤性息肉病的新见解
Front Oncol. 2021 Feb 8;11:570241. doi: 10.3389/fonc.2021.570241. eCollection 2021.
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Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial.舒林酸和厄洛替尼与安慰剂治疗家族性腺瘤性息肉病结直肠肿瘤的比较:一项随机临床试验的二次分析。
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Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.APC 和 MUTYH 基因突变谱及巴西 FAP、AFAP 和 MAP 患者的基因型-表型相关性。
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Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis.家族性腺瘤性息肉病患者回肠袋发生腺瘤和癌的风险。
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Am J Med Genet A. 2006 Feb 1;140(3):200-4. doi: 10.1002/ajmg.a.31010.
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Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.与结肠家族性息肉病相关的中枢神经系统恶性肿瘤:两例报告。
Dis Colon Rectum. 1959 Sep-Oct;2:465-8. doi: 10.1007/BF02616938.
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Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study.舒林酸用于家族性腺瘤性息肉病的长期治疗:一项前瞻性队列研究。
Gastroenterology. 2002 Mar;122(3):641-5. doi: 10.1053/gast.2002.31890.