Hansel Donna E, Rini Brian I
Department of Anatomic Pathology, Glickman Urological & Kidney Institute and Taussig Cancer Institute, The Cleveland Clinic, 9500 Euclid Avenue, Desk L25, Cleveland, OH 44195, USA.
Expert Rev Anticancer Ther. 2008 Jun;8(6):895-905. doi: 10.1586/14737140.8.6.895.
Renal cell carcinoma may be sporadic or occur in the setting of an inherited cancer syndrome, such as von Hippel-Lindau or Birt-Hogg-Dube syndrome. Although the clinical spectrum of heritable renal cancer syndromes varies significantly, commonalities include the often young age of presentation, multifocal and bilateral nature of renal lesions, and autosomal dominant pattern of inheritance. Molecular studies have recently begun to elucidate the genetic abnormalities and subsequent alterations in downstream intracellular signaling cascades that underlie the development of these syndromes. This review will highlight the clinicopathologic and molecular features associated with the diverse array of heritable renal cancer syndromes and emphasize the potential cellular pathways that may be utilized to develop novel treatment strategies for patients with these syndromes.
肾细胞癌可能是散发性的，也可能发生在遗传性癌症综合征的背景下，如冯·希佩尔-林道综合征或Birt-Hogg-Dube综合征。尽管遗传性肾癌综合征的临床谱差异很大，但共同点包括发病年龄通常较轻、肾脏病变的多灶性和双侧性以及常染色体显性遗传模式。分子研究最近已开始阐明这些综合征发生发展背后的基因异常以及下游细胞内信号级联反应的后续改变。本综述将重点介绍与各种遗传性肾癌综合征相关的临床病理和分子特征，并强调可能用于为这些综合征患者开发新治疗策略的潜在细胞途径。
