膀胱癌，细胞基因组学的最新进展。

Bladder Cancer, a Cytogenomic Update.

作者信息

Ruggero Andrew, Clark Mitchell, Lewkowski Alexandria, Hurtado Rodrigo, Tirado Carlos A

机构信息

The International Circle of Genetics Studies, Stony Brook Chapter, Stony Brook, NY.

Texas A and M College of Medicine, College Station, TX.

出版信息

J Assoc Genet Technol. 2024;50(3):114-126.

PMID:39222520

Abstract

Bladder cancer is a highly heterogeneous malignancy, affecting 600,000 people annually. Approximately 66% of patients will recur within five years; accordingly, accurate diagnosis and intensive surveillance of bladder cancer are crucial for effective treatment. This update aims to consolidate the genetic-molecular understanding of bladder cancer via investigation of the crucial genetic players in bladder cancer. Chief is the 9p21 locus and the genes FGFR3, RB1, HRAS, TP53, TSC1, TERT, HER2, and PIK3CA. Analysis of these genes has been made possible by the development of non-invasive cytogenetic diagnostic tools such as UroVysion FISH. Novel gene therapy for the genes interferon α2b, HER2, and FGFR3, and immunotherapy targeting of frequently mutated transduction pathways are promising treatments.

摘要

膀胱癌是一种高度异质性的恶性肿瘤，每年影响60万人。约66%的患者会在五年内复发；因此，准确诊断和对膀胱癌进行密切监测对于有效治疗至关重要。本综述旨在通过研究膀胱癌中的关键基因参与者来巩固对膀胱癌的遗传分子理解。其中首要的是9p21位点以及FGFR3、RB1、HRAS、TP53、TSC1、TERT、HER2和PIK3CA基因。诸如UroVysion FISH等非侵入性细胞遗传学诊断工具的发展使得对这些基因的分析成为可能。针对干扰素α2b、HER2和FGFR3基因的新型基因疗法，以及针对频繁突变的转导途径的免疫疗法是很有前景的治疗方法。