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Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome
Familial Cancer ( IF 2.2 ) Pub Date : 2023-04-29 , DOI: 10.1007/s10689-023-00334-3
J K Stone 1 , N A Mehta 2 , H Singh 1, 3 , W El-Matary 4 , C N Bernstein 1
Affiliation  

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.



中文翻译:

家族性腺瘤性息肉病综合征的内镜和化学预防治疗

家族性腺瘤性息肉病 (FAP) 是一种常染色体显性遗传综合征,由于高息肉病负担,受影响的个体易患胃肠道 (GI) 癌症。45 岁时结直肠癌发病率达到 100%,因此早期结肠切除术成为主要治疗方法。虽然大多数患者在很小的时候就接受了结肠切除术,但对上胃肠道和直肠储袋的持续筛查和监测必须持续到整个成年期。胃、十二指肠、壶腹和直肠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途径的医学疗法已经研究了多年。虽然关于使用阿司匹林和非甾体类抗炎药 (NSAID) 进行化学预防的研究显示,在林奇综合征和原发性结直肠癌方面取得了令人鼓舞的结果,但这些药物的潜在益处尚未在 FAP 队列中得到重复。虽然 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,以检验是否有可能减缓疾病进展的靶向疗法。本综述旨在对当前内镜选择和针对 FAP 的化学预防疗法的文献进行深入回顾。虽然内窥镜治疗有可靠的使用数据,但 FAP 的化学预防仍处于起步阶段。对 FAP 患者补充使用化学预防药物和内镜治疗正迅速成为一个不断发展且令人兴奋的研究领域。

更新日期:2023-04-29
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