Hereditary Renal Cell Carcinoma Syndromes Clinical, Pathologic, and Genetic Features
Hereditary Renal Cell Carcinoma Syndromes Clinical, Pathologic, and Genetic Features
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DOI：
10.1097/pas.0000000000000562
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发表时间：
2015-12-01
影响因子：
5.6
通讯作者：
Humphrey, Peter A.
中科院分区：
文献类型：
--
作者：
Adeniran, Adebowale J.;Shuch, Brian;Humphrey, Peter A.
与遗传性综合征相关的肾细胞癌约占所有肾细胞癌的4%。它们的特点是发病年龄较早，通常是多中心和双侧。其中一些患者可能符合典型的肾癌综合征，而更多的患者可能具有尚未完全认识或了解的遗传成分。肾外临床特征的出现可能提示一种特殊的肾肿瘤易感综合征。此外，每种综合征都与特定的肾脏病理表现相关。认识到个人和家庭与肾肿瘤的高风险是重要的，以便监测肾肿瘤可能开始。本文综述了遗传性肾细胞癌综合征的临床、病理和分子特征，重点介绍了这些肿瘤的形态学特征和遗传性肾肿瘤发生的分子机制。
Renal cell carcinomas associated with syndromes of a heritable nature account for about 4% of all renal cell carcinomas. They are characterized by an earlier age of onset, and are often multicentric and bilateral. Some of these patients may fit into well-characterized kidney cancer syndromes, while many more may have a genetic component that is not fully recognized or understood. The presence of extrarenal clinical features may suggest a specific renal tumor susceptibility syndrome. Moreover, each syndrome is associated with specific renal pathology findings. Recognition of individuals and families with a high risk of renal neoplasia is important so that surveillance for renal tumors may be initiated. This manuscript reviews the clinical, pathological, and molecular features of hereditary renal cell carcinoma syndromes with emphasis on the morphologic features of these tumors and the molecular mechanisms of hereditary renal tumorigenesis.