Lopez-Beltran Antonio, Cimadamore Alessia, Montironi Rodolfo, Cheng Liang
Department of Morphological Sciences, Cordoba University Medical School, Cordoba, E-14004, Spain.
Section of Pathological Anatomy, Polytechnic University of the Marche Region, School of Medicine, United Hospitals, Ancona, 60126, Italy.
Hum Pathol. 2021 Jul;113:67-83. doi: 10.1016/j.humpath.2021.04.001. Epub 2021 Apr 19.
The current personalized oncology era has witnessed significant efforts to integrate clinical, pathological, and molecular classifications. The growing need for molecular biomarkers to feed personalized oncology, together with the unprecedented wealth of knowledge on the molecular basis of bladder cancer, has led to a novel approach to this disease, incorporating molecularly generated data in clinical practice for locally advanced or metastatic disease. Translational research allows a better understanding of the early events in the development of urothelial carcinoma in the urinary bladder. Thus, mutations in the KMT2D and KDM6A chromatin-modifying genes confer competitive advantages that drive cells to colonize larger regions of the urothelium. Additional mutations in TP53, PIK3CA, FGFR3, or RB1 genes then trigger the process of malignant transformation in the urothelium. In the current review, we provide an overview of what could be the expected transition from the morphology-based classification to a combined, molecularly enriched reporting of clinically meaningful parameters aiming to promote personalized oncology of urothelial carcinoma.
当前的个性化肿瘤学时代见证了在整合临床、病理和分子分类方面所做出的巨大努力。为满足个性化肿瘤学对分子生物标志物的需求不断增长，以及膀胱癌分子基础方面前所未有的丰富知识，已催生出一种针对该疾病的新方法，即将分子生成的数据纳入局部晚期或转移性疾病的临床实践中。转化研究有助于更好地理解膀胱尿路上皮癌发生发展的早期事件。因此，KMT2D和KDM6A染色质修饰基因的突变赋予细胞竞争优势，促使其在尿路上皮的更大区域定植。随后，TP53、PIK3CA、FGFR3或RB1基因的额外突变触发尿路上皮的恶性转化过程。在本综述中，我们概述了从基于形态学的分类向结合分子信息、报告具有临床意义参数的预期转变，旨在推动尿路上皮癌的个性化肿瘤学发展。
