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截短突变:对尿路癌生物学的深入洞察?

Truncating mutations: an insight into the biology of urinary tract carcinomas?

作者信息

Alhalabi Omar, Msaouel Pavlos

机构信息

Department of Genitourinary Medical Oncology, Division of Cancer Medicine, The University of Texas M.D. Anderson Cancer Center Houston, TX, USA.

David H. Koch Center for Applied Research of Genitourinary Cancers, The University of Texas, MD Anderson Cancer Center Houston, USA.

出版信息

Am J Cancer Res. 2021 Dec 15;11(12):6214-6217. eCollection 2021.

PMID:35018253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8727807/
Abstract

A recent study by Arnoff and El-Deiry found that urothelial carcinomas of the bladder and upper tract as well as chromophobe renal cell carcinoma are more likely than other malignancies to harbor alterations in the gene, encoding for the cyclin-dependent kinase inhibitor p21, a major target of p53 regulatory pathways. Most of these mutations were truncating and thus presumably resulting in loss of p21 function. Herein, we discuss the prognostic and therapeutic implications of these findings.

摘要

阿诺夫和埃尔-戴里最近的一项研究发现,膀胱和上尿路尿路上皮癌以及肾嫌色细胞癌比其他恶性肿瘤更有可能在编码细胞周期蛋白依赖性激酶抑制剂p21(p53调节通路的主要靶点)的基因中发生改变。这些突变大多是截短突变,因此可能导致p21功能丧失。在此,我们讨论这些发现的预后和治疗意义。

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CDKN1A/p21, RB1, ARID1A, FLG, and HRNR mutation patterns provide insights into urinary tract environmental exposure carcinogenesis and potential treatment strategies.CDKN1A/p21、RB1、ARID1A、FLG和HRNR的突变模式为深入了解尿路环境暴露致癌作用及潜在治疗策略提供了线索。
Am J Cancer Res. 2021 Nov 15;11(11):5452-5471. eCollection 2021.
2
Integrative Clinical and Genomic Characterization of MTAP-deficient Metastatic Urothelial Cancer.整合性临床与基因组特征分析 MTAP 缺失型转移性尿路上皮癌
Eur Urol Oncol. 2023 Apr;6(2):228-232. doi: 10.1016/j.euo.2021.10.006. Epub 2021 Nov 14.
3
The evolving treatment landscape of advanced urothelial carcinoma.晚期尿路上皮癌治疗领域的不断发展。
Curr Opin Oncol. 2021 May 1;33(3):221-230. doi: 10.1097/CCO.0000000000000722.
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Immune checkpoint inhibitors in advanced upper and lower tract urothelial carcinoma: a comparison of outcomes.免疫检查点抑制剂在晚期上尿路和下尿路尿路上皮癌中的应用:疗效比较。
BJU Int. 2021 Aug;128(2):196-205. doi: 10.1111/bju.15324. Epub 2021 Feb 8.
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Comprehensive integrative profiling of upper tract urothelial carcinomas.全面综合分析上尿路尿路上皮癌。
Genome Biol. 2021 Jan 4;22(1):7. doi: 10.1186/s13059-020-02230-w.
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Systemic Therapies for the Management of Non-Clear Cell Renal Cell Carcinoma: What Works, What Doesn't, and What the Future Holds.非透明细胞肾细胞癌的系统治疗:哪些有效,哪些无效,以及未来的发展方向。
Clin Genitourin Cancer. 2021 Apr;19(2):103-116. doi: 10.1016/j.clgc.2020.11.005. Epub 2020 Dec 2.
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Molecular Profiling of Metastatic Bladder Cancer Early-Phase Clinical Trial Participants Predicts Patient Outcomes.转移性膀胱癌早期临床试验参与者的分子谱分析可预测患者结局。
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