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肾上皮性肿瘤:基因表达谱分析的诊断应用

Renal epithelial neoplasms: diagnostic applications of gene expression profiling.

作者信息

Young Andrew N, Master Viraj A, Paner Gladell P, Wang May D, Amin Mahul B

机构信息

Department of Pathology and Laboratory Medicine, Emory University School of Medicine/Grady Memorial Hospital, 80 Jesse Hill Jr. Drive SE, Atlanta, GA 30303, USA.

出版信息

Adv Anat Pathol. 2008 Jan;15(1):28-38. doi: 10.1097/PAP.0b013e3181594720.

DOI:10.1097/PAP.0b013e3181594720
PMID:18156810
Abstract

Renal cell carcinoma (RCC) is the most common form of kidney cancer in adults. RCC is a significant challenge for pathologic diagnosis and clinical management. The primary approach to diagnosis is by light microscopy, using the World Health Organization (WHO) classification system, which defines histopathologic tumor subtypes with distinct clinical behavior and underlying genetic mutations. However, light microscopic diagnosis of RCC subtypes can be difficult due to variable histology, morphologic features shared by tumor subtypes, and a growing frequency of small tumor biopsies with limited morphologic information. In addition to these diagnostic problems, the clinical behavior of RCC is highly variable, and therapeutic response rates are poor. Few clinical assays are available to predict outcome in RCC or correlate behavior with histology. Therefore, novel RCC classification systems based on gene expression should be useful for diagnosis, prognosis, and treatment. Recent microarray studies have shown that renal tumors are characterized by distinct gene expression profiles, which can be used to discover novel diagnostic and prognostic biomarkers. Here, we review clinical features of kidney cancer, the WHO classification system, and the growing role of molecular classification for diagnosis, prognosis, and therapy of this disease.

摘要

肾细胞癌(RCC)是成人中最常见的肾癌形式。RCC对病理诊断和临床管理而言是一项重大挑战。主要的诊断方法是通过光学显微镜检查,采用世界卫生组织(WHO)分类系统,该系统定义了具有不同临床行为和潜在基因突变的组织病理学肿瘤亚型。然而,由于组织学变化、肿瘤亚型共有的形态学特征,以及形态学信息有限的小肿瘤活检频率不断增加,RCC亚型的光学显微镜诊断可能会很困难。除了这些诊断问题外,RCC的临床行为高度可变,治疗反应率也很低。几乎没有临床检测方法可用于预测RCC的预后或将行为与组织学相关联。因此,基于基因表达的新型RCC分类系统应有助于诊断、预后评估和治疗。最近的微阵列研究表明,肾肿瘤具有独特的基因表达谱,可用于发现新的诊断和预后生物标志物。在此,我们综述了肾癌的临床特征、WHO分类系统,以及分子分类在该疾病诊断、预后评估和治疗中日益重要的作用。

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Onco Targets Ther. 2013 Apr 10;6:349-54. doi: 10.2147/OTT.S41343. Print 2013.
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Chromosome 14q loss defines a molecular subtype of clear-cell renal cell carcinoma associated with poor prognosis.14q 染色体缺失定义了与预后不良相关的透明细胞肾细胞癌的一种分子亚型。
Mod Pathol. 2011 Nov;24(11):1470-9. doi: 10.1038/modpathol.2011.107. Epub 2011 Jul 1.
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Misdiagnosis of clear cell renal cell carcinoma.
误诊为透明细胞肾细胞癌。
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Molecular Stratification of Clear Cell Renal Cell Carcinoma by Consensus Clustering Reveals Distinct Subtypes and Survival Patterns.通过共识聚类对透明细胞肾细胞癌进行分子分层揭示了不同的亚型和生存模式。
Genes Cancer. 2010 Feb 1;1(2):152-163. doi: 10.1177/1947601909359929.
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Molecular characterization of preneoplastic lesions provides insight on the development of renal tumors.肿瘤前病变的分子特征为肾肿瘤的发展提供了见解。
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