peutz - jegers综合征患者的小肠腺癌

A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko
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摘要

Peutz-Jeghers综合征是一种常染色体显性遗传的遗传病,以STK11基因突变为特征。根据国内文献,父母将这种病理遗传给孩子的风险为50%。根据世卫组织的数据,2018年,俄罗斯联邦新发现的结直肠肿瘤病例超过7.4万例,其中5-10%为遗传性综合征,其中1%为Peutz-Jeghers综合征。发生的频率大约是1/29,000-1/120,000。这项工作的目的是分享诊断和治疗Peutz-Jeghers综合征患者的经验。今天,我们有能力及时诊断小肠粘膜的病理变化,进行微创治疗,减少手术创伤,缩短康复时间。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000.  The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.
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