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分子泌尿病理学和癌症遗传学:泌尿外科医生的关键发现用于分类和诊断。

Molecular uropathology and cancer genetics for the urologist: key findings for classification and diagnosis.

机构信息

Department of Pathology, General Hospital of Vienna, Medical University of Vienna, Vienna, Austria.

Department of Pathology, Sorbonne University, Assistance Publique-Hôpital de Paris, Hopital Tenon, Paris, France.

出版信息

Curr Opin Urol. 2022 Sep 1;32(5):451-455. doi: 10.1097/MOU.0000000000001025. Epub 2022 Jul 18.

Abstract

PURPOSE OF REVIEW

To highlight the latest changes in prostate cancer (PCa), urothelial carcinoma, upper tract urothelial carcinoma (UTUC) and renal cell carcinoma (RCC) diagnosis and the impact of genetics in this field.

RECENT FINDINGS

Breast cancer1/2 mutations start to play a major role in PCa treatment with regard to personalized medicine. In urothelial carcinoma an overlap between histological pathological and molecular findings exists, fibroblast growth factor receptor alteration are starting to play a major role, programmed death-ligand 1 although problematic is still important in the treatment setting. UTUC is rare, but genetically different from urothelial carcinoma. In the development of RCC, different genetic pathways such as Von Hippel-Lindau, but also tuberous sclerosis 1/2 and others play a major role in tumor development.

SUMMARY

Over the last years, genetics has become increasingly important role in the diagnosis and the treatment of patients with urological malignancies. The upcoming 5th edition (1) of the WHO still considers conventional surgical pathology as the diagnostic gold standard, but molecular pathology is gaining importance not only for diagnosis, but also in personalized treatment, of prostate, kidney cancer and urothelial carcinomas. Therefore, a close collaboration between surgical urology, pathology and oncology departments is mandatory. In this review, we will discuss the latest evolutions in PCa, urothelial carcinoma, upper urinary tract carcinomas and RCC s in the field of genetics in urology.

摘要

目的综述

强调前列腺癌(PCa)、尿路上皮癌、上尿路上皮癌(UTUC)和肾细胞癌(RCC)诊断方面的最新变化,以及遗传学在该领域的影响。

最新发现

乳腺癌 1/2 突变开始在 PCa 的个体化治疗中发挥重要作用。在尿路上皮癌中,组织病理学和分子学发现之间存在重叠,成纤维细胞生长因子受体改变开始发挥重要作用,程序性死亡配体 1 虽然存在问题,但在治疗环境中仍然很重要。UTUC 很少见,但与尿路上皮癌在遗传学上不同。在 RCC 的发展过程中,不同的遗传途径,如 Von Hippel-Lindau,但也有结节性硬化症 1/2 等,在肿瘤的发展中起着重要作用。

总结

在过去的几年中,遗传学在诊断和治疗泌尿系统恶性肿瘤患者方面的作用越来越重要。即将出版的第 5 版(1)世界卫生组织仍将传统的外科病理学作为诊断的金标准,但分子病理学不仅在诊断方面,而且在前列腺癌、肾癌和尿路上皮癌的个体化治疗方面也越来越重要。因此,外科泌尿科、病理学和肿瘤学部门之间的密切合作是必不可少的。在这篇综述中,我们将讨论泌尿外科遗传学领域中 PCa、尿路上皮癌、上尿路上皮癌和 RCC 的最新进展。

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