膀胱癌细胞基因组最新进展。

Andrew Ruggero, Mitchell Clark, Alexandria Lewkowski, Rodrigo Hurtado, Carlos A Tirado
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引用次数: 0

摘要

目的: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,膀胱癌的准确诊断和强化监测对有效治疗至关重要。本次更新旨在通过研究膀胱癌的关键遗传参与者,巩固对膀胱癌的遗传分子认识。其中最主要的是 9p21 基因座和 FGFR3、RB1、HRAS、TP53、TSC1、TERT、HER2 和 PIK3CA 基因。无创细胞遗传学诊断工具(如 UroVysion FISH)的开发使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通路的免疫疗法都是很有前景的治疗方法。
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Bladder Cancer, a Cytogenomic Update.

Objectives: 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.

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