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非肌肉浸润性膀胱癌的突变全景。

Mutational landscape of non-muscle-invasive bladder cancer.

机构信息

Section of Molecular Oncology, Leeds Institute of Cancer and Pathology, St James's University Hospital, Leeds, United Kingdom.

Section of Molecular Oncology, Leeds Institute of Cancer and Pathology, St James's University Hospital, Leeds, United Kingdom.

出版信息

Urol Oncol. 2022 Jul;40(7):295-303. doi: 10.1016/j.urolonc.2018.10.015. Epub 2018 Nov 13.

DOI:10.1016/j.urolonc.2018.10.015
PMID:30446444
Abstract

Non-muscle-invasive bladder cancer (NMIBC) includes stage Ta and stage T1 tumors and carcinoma in situ (CIS). Grading of Ta tumors subdivides these lesions into papillary urothelial neoplasms of low malignant potential and low- and high-grade noninvasive papillary urothelial carcinoma. CIS is by definition high-grade and the majority of stage T1 tumors are of high-grade. This pathologic heterogeneity is associated with divergent clinical outcome, with significantly worse prognosis for patients with T1 tumors or CIS. A wealth of molecular information has accumulated on NMIBC including mutational data that ranges from the whole chromosome level to next generation sequence data at nucleotide level. This has not only identified key genes that are mutated in NMIBC, but also provides insight into the processes that shape their mutational landscape. Although molecular analyses cannot yet provide definitive personal prognostic information, many differences between these entities promise improved disease management in the future. Most information is available for Ta and T1 samples and this is the focus of this review.

摘要

非肌层浸润性膀胱癌(NMIBC)包括 Ta 期和 T1 期肿瘤和原位癌(CIS)。Ta 肿瘤的分级将这些病变细分为低度恶性潜能的乳头状尿路上皮肿瘤和低级别和高级别非浸润性乳头状尿路上皮癌。CIS 的定义为高级别,大多数 T1 期肿瘤为高级别。这种病理异质性与不同的临床结局相关,T1 期肿瘤或 CIS 患者的预后明显更差。大量关于 NMIBC 的分子信息已经积累,包括从整个染色体水平到核苷酸水平的下一代序列数据的突变数据。这不仅确定了在 NMIBC 中发生突变的关键基因,还深入了解了塑造其突变景观的过程。尽管分子分析目前尚不能提供明确的个人预后信息,但这些实体之间的许多差异有望在未来改善疾病管理。大多数信息可用于 Ta 和 T1 样本,这也是本综述的重点。

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