家族性腺瘤性息肉病综合征的内镜和化学预防性治疗。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-04-29 DOI:10.1007/s10689-023-00334-3
J K Stone, N A Mehta, H Singh, W El-Matary, C N Bernstein
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引用次数: 0

摘要

家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传综合征,通过息肉病的高负担,易患胃肠道(GI)癌。结直肠癌癌症发病率在45岁时达到100%,使早期结肠切除术成为治疗的主要手段。虽然大多数患者在很小的时候就接受结肠切除术,但对上消化道和直肠袋的持续筛查和监测必须在整个成年期继续进行。胃、十二指肠、壶腹部和直肠袋状息肉的内镜治疗对于降低发病率和癌症相关死亡率至关重要。这些病变的处理并不统一,取决于其位置、大小、组织学和潜在恶性风险。针对减少癌前病变恶性进展的途径的医学治疗已经研究了多年。虽然阿司匹林和非甾体抗炎药(NSAIDs)用于化学预防的研究在林奇综合征和原发性癌症中显示了令人鼓舞的结果,但这些药物的潜在益处在FAP队列中没有重复。虽然关于FAP化学预防的数据仍然有限,但目前正在进行一些随机试验,研究有可能减缓疾病进展的靶向疗法。这篇综述旨在对当前针对FAP的内镜选择和化学预防治疗的文献进行深入综述。虽然内窥镜治疗有可靠的数据可供使用,但FAP的化学预防仍处于初级阶段。化学预防剂和内镜治疗FAP患者的互补应用正在迅速成为一个不断发展和令人兴奋的研究领域。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome.

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing affected individuals to gastrointestinal (GI) cancers through a high burden of polyposis. Colorectal cancer rates reach 100% by the age of 45, making early colectomy a mainstay of treatment. While most patients undergo colectomy at an early age, ongoing screening and surveillance of the upper gastrointestinal tract and rectal pouch must continue throughout adulthood. Endoscopic therapy of gastric, duodenal, ampullary and rectal pouch polyps is critical to reduce morbidity and cancer related mortality. Management of these lesions is not uniform, and is dependent on their location, size, histology, and risk of malignant potential. Medical therapies targeting pathways that reduce the malignant progression of pre-cancerous lesions have been studied for many years. While studies on the use of aspirin and non-steroidal anti-inflammatories (NSAIDs) in chemoprevention have shown encouraging results in Lynch syndrome and primary colorectal cancer, the potential benefits of these medications have not been duplicated in FAP cohorts. While data remains limited on chemoprevention in FAP, a number of randomized trials are currently underway examining targeted therapies with the potential to slow the progression of the disease. This review aims to provide an in-depth review of the literature on current endoscopic options and chemopreventive therapies targeting FAP. While the endoscopic management has robust data for its use, chemoprevention in FAP is still in its infancy. The complementary use of chemopreventive agents and endoscopic therapy for FAP patients is quickly becoming a growing and exciting area of research.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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