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遗传性息肉病综合征仍然是一个具有挑战性的疾病实体:旧困境与新见解。

Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights.

作者信息

Pachler Frederik Rønne, Byrjalsen Anna, Karstensen John Gásdal, Jelsig Anne Marie

机构信息

Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital - Amager and Hvidovre Hospital, Hvidovre 2650, Denmark.

Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen 2100, Denmark.

出版信息

World J Gastrointest Surg. 2023 Jan 27;15(1):1-8. doi: 10.4240/wjgs.v15.i1.1.

Abstract

In this editorial we present an overview and insights of the management of hereditary polyposis syndromes. The primary focus was on familial adenomatous polyposis, juvenile polyposis syndrome and Peutz-Jegher syndrome. Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice. Furthermore, several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes, allowing for precise diagnostics and tailored follow-up. Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies. Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions. Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described. Surgery is still a key component in the management of patients with hereditary polyposis syndromes. The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development. Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations. Development of chemopreventive medications is ongoing. Few drugs have been investigated, including nonsteroidal anti-inflammatory drugs. It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps. Other medications are currently under investigation, but none have, to date, consistently been able to prevent development of disease.

摘要

在这篇社论中,我们概述并深入探讨遗传性息肉病综合征的管理。主要聚焦于家族性腺瘤性息肉病、幼年性息肉病综合征和佩-吉综合征。基因检测越来越容易获得,并且比以往任何时候都更容易融入临床实践。此外,与遗传性息肉病综合征相关的基因列表不断扩充,新增了多个基因,这有助于进行精确诊断和定制化随访。对遗传性息肉病综合征患者进行内镜评估在监测策略中至关重要。当前的内镜检查程序包括诊断性检查、监测以及治疗干预。文中描述了上消化道和下消化道内镜检查程序的相关建议。手术仍然是遗传性息肉病综合征患者管理的关键组成部分。这些患者患癌风险增加,这常常使得在癌症发生时需要采取预防性手术或根治性手术。文中描述了上消化道和下消化道的手术干预及相关注意事项。化学预防药物的研发正在进行中。已对少数药物进行了研究,包括非甾体抗炎药。已证明环氧合酶-2抑制剂可能会减少息肉数量。目前正在研究其他药物,但迄今为止,尚无任何一种药物能够始终如一地预防疾病的发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5376/9896492/3a2dd6f6968a/WJGS-15-1-g001.jpg

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