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膀胱癌的新型非侵入性诊断策略

Novel non invasive diagnostic strategies in bladder cancer.

作者信息

Truta Anamaria, Popon Tudor Adrian Hodor, Saraci George, Ghervan Liviu, Pop Ioan Victor

机构信息

Medical Genetics Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; Research Center of Functional Genomics Biomedicine &Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; I. Chiricuta Oncology Institute, Cluj-Napoca, Romania.

Department of Urology - Robotic Surgery, Clinical Municipal Hospital Cluj-Napoca, Romania.

出版信息

Clujul Med. 2016;89(2):187-92. doi: 10.15386/cjmed-534. Epub 2016 Apr 15.

Abstract

Bladder cancer is one of the most commonly diagnosed malignancies worldwide, derived from the urothelium of the urinary bladder and defined by long asymptomatic and atypical clinical picture. Its complex etiopathogenesis is dependent on numerous risk factors that can be divided into three distinct categories: genetic and molecular abnormalities, chemical or environmental exposure and previous genitourinary disorders and family history of different malignancies. Various genetic polymorphisms and microRNA might represent useful diagnostic or prognostic biomarkers. Genetic and molecular abnormalities - risk factors are represented by miRNA or genetic polymorphisms proved to be part of bladder carcinogenesis such as: genetic mutations of oncogenes TP53, Ras, Rb1 or p21 oncoproteins, cyclin D or genetic polymorhisms of XPD,ERCC1, CYP1B1, NQO1C609T, MDM2SNP309, CHEK2, ERCC6, NRF2, NQO1Pro187Ser polymorphism and microRNA (miR-143, -145, -222, -210, -10b, 576-3p). The aim of our article is to highlight the most recent acquisitions via molecular biomarkers (miRNAs and genetic polymorphisms) involved in bladder cancer in order to provide early diagnosis, precise therapy according to the molecular profile of bladder tumors, as well as to improve clinical outcome, survival rates and life quality of oncological patients. These molecular biomarkers play a key role in bladder carcinogenesis, clinical evolution, prognosis and therapeutic response and explain the molecular mechanisms involved in bladder carcinogenesis; they can also be selected as therapeutic targets in developing novel therapeutic strategies in bladder malignancies. Moreover, the purpose in defining these molecular non invasive biomarkers is also to develop non invasive screening programs in bladder malignancies with the result of decreasing bladder cancer incidence in risk population.

摘要

膀胱癌是全球最常见的诊断恶性肿瘤之一,起源于膀胱尿路上皮,其临床症状长期无特异性且不典型。其复杂的病因发病机制取决于众多风险因素,这些因素可分为三大类:遗传和分子异常、化学或环境暴露以及既往泌尿生殖系统疾病和不同恶性肿瘤的家族史。各种基因多态性和微小RNA可能是有用的诊断或预后生物标志物。遗传和分子异常——风险因素表现为已被证明是膀胱癌发生一部分的微小RNA或基因多态性,例如:癌基因TP53、Ras、Rb1或p21癌蛋白、细胞周期蛋白D的基因突变,或XPD、ERCC1、CYP1B1、NQO1 C609T、MDM2 SNP309、CHEK2、ERCC6,、NRF2、NQO1 Pro187Ser多态性以及微小RNA(miR-143、-145、-222、-210、-10b、576-3p)的基因多态性。我们文章的目的是强调通过参与膀胱癌的分子生物标志物(微小RNA和基因多态性)的最新研究成果,以便提供早期诊断,根据膀胱肿瘤的分子特征进行精准治疗,以及改善肿瘤患者的临床结局、生存率和生活质量。这些分子生物标志物在膀胱癌发生、临床进展、预后和治疗反应中起关键作用,并解释了膀胱癌发生的分子机制;它们还可被选作开发膀胱恶性肿瘤新治疗策略的治疗靶点。此外,定义这些分子非侵入性生物标志物的目的还在于开发膀胱恶性肿瘤的非侵入性筛查项目,以降低高危人群中膀胱癌的发病率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84d8/4849373/7604e0c40d42/cm-89-187f1.jpg

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