New developments related to the diagnosis of urothelial carcinoma of the upper urinary tract
杨佳雨 1陈倩1
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作者信息
1. 中南大学湘雅三医院病理科,湖南 长沙 410013
折叠
摘要
上尿路尿路上皮癌(urothelial carcinoma of the upper urinary tract,UTUC)是起源于肾盂和输尿管的尿路上皮癌,预后较差,相对少见,占所有尿路上皮癌的5％～10％.近年来,关于UTUC的研究,尤其是分子遗传学及诊断方法取得一定进展,本文对目前UTUC流行病学、危险因素、遗传学、诊断、危险分层及预后因素方面进展做出系统综述.中国UTUC发病率高于西方国家,且存在地域差异;UTUC主要与吸烟和芳香胺暴露等有关.近年来,多项研究尝试基于RNA表达或基因突变对UTUC进行分子分型,以利于实现个体化精准诊疗,但目前尚未取得共识,暂未应用于临床实践;推荐针对UTUC患者进行林奇综合征(Lynch syndrome,LS)相关筛查.目前,UTUC的诊断多采用CT尿路造影(computerized tomography urography,CTU)、磁共振尿路造影(magnetic resonance urography,MRU)、输尿管镜(uret-eroscopy,URS)及组织活检,液体活检、窄带成像、光学相干层析成像、共聚焦激光内窥镜等新技术值得期待,但还需要更进一步的研究.欧洲泌尿外科协会UTUC指南建议将UTUC分为低风险组和高风险组,有利于确定哪些患者更有可能在保留肾脏的治疗中受益,最大程度防止治疗不足或过度,对个性化治疗和随访至关重要,但仍然具有挑战性.
Abstract
Urothelial carcinoma of the upper urinary tract(UTUC)originates from the urothelium of the renal pelvis and ureters.It has a poor prognosis and is relatively rare,accounting for 5％-10％of all urothelial carcinomas.In recent years,there have been some advances in the research on UTUC,especially in molecular genetics and diagnostic methods.This article provides a systematic review of the current progress in the epidemiology,risk factors,genetics,diagnosis,risk stratification,and prognostic factors of UTUC.The incidence of UTUC in China is higher than that in Western countries,with notable regional differences.UTUC is primarily associated with smoking and exposure to aromatic amines.Recent studies have attempted to perform molecular typing of UTUC based on RNA expression or gene mutations to facilitate individualized and precise diagnosis and treatment,but no consensus has been reached yet,and these approaches have not been applied in clinical practice.Screening for Lynch syndrome(LS)is recommended for UTUC patients.At present,the diagnosis of UTUC primarily relies on computerized tomography urography(CTU),magnetic resonance urography(MRU),ureteroscopy(URS),and tissue biopsy.New technologies such as liquid biopsy,narrow-band imaging,optical coherence tomography,and confocal laser endoscopy are promising,but requires further research.According to the European Association of Urology UTUC guidelines,it is recommended to stratify UTUC into low-risk and high-risk groups.This stratification aids in determining which patients are more likely to benifit from kidney preserving treatment,preventing insufficient or excessive treatment,and is crucial for personalized treatment and follow-up,However,implementing this approach remains challenging.
关键词
上尿路尿路上皮癌/流行病学/危险因素/遗传学/诊断/危险分层/预后因素
Key words
Urothelial carcinoma of the upper urinary tract/Epidemiology/Risk factors/Genetics/Diagnosis/Risk stratification/Prognostic factors
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