Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine.

IF 3.6 3区 医学 Q1 PATHOLOGY
Ali Amin, Fatemeh Khalatbari, Liang Cheng
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引用次数: 0

Abstract

Introduction: The urothelium of the upper tract (renal pelvis and ureter) has morphological and functional similarities to the bladder. There are also morphological similarities between the urothelial carcinoma of the upper tract (UTUC) and the bladder (UCB). However, there are differences in the embryological origin, phenotype, disease course, and response to treatment between the upper tract and bladder urothelium and their corresponding malignancies. Comprehensive genomic studies can provide valuable information about the differences between UTUC and UCB, which have diagnostic and therapeutic implications.

Areas covered: In this study, we have collected and compared the available literature on the next-generation sequencing (NGS) of the UTUC and compared it to UCB with a focus on the effect of genomic changes on the disease course and management. The review revealed the value of NGS in providing important information for diagnosis and management, which can result in more successful precision medicine.

Expert opinion: Although there are shared gene alterations between UTUC and UCB, the presence of minor genomic variations between the two site differences in the genomic alterations can explain differences in disease course. An upfront knowledge of the molecular alterations in UTUC can provide valuable information for patient care.

上尿路上皮癌的基因谱分析:精密医学的必要条件。
导读:上尿路(肾盂和输尿管)的尿路上皮在形态和功能上与膀胱相似。上尿道尿路上皮癌(UTUC)和膀胱(UCB)在形态学上也有相似之处。然而,上尿路和膀胱尿路上皮及其相应的恶性肿瘤在胚胎起源、表型、病程和治疗反应方面存在差异。全面的基因组研究可以提供关于UTUC和UCB之间差异的有价值的信息,这具有诊断和治疗意义。涉及领域:在本研究中,我们收集并比较了关于UTUC下一代测序(NGS)的现有文献,并将其与UCB进行了比较,重点研究了基因组变化对疾病病程和管理的影响。综述揭示了NGS在为诊断和管理提供重要信息方面的价值,从而使精准医疗更加成功。专家意见:尽管在UTUC和UCB之间存在共同的基因改变,但在两个位点之间存在微小的基因组变异,基因组改变的差异可以解释疾病病程的差异。对UTUC分子改变的预先了解可以为患者护理提供有价值的信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
6.60
自引率
0.00%
发文量
71
审稿时长
1 months
期刊介绍: Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.
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