Genetic alterations and histopathologic findings in familial renal cell carcinoma.
Renal cell carcinoma is increasing in frequency in the United States and is often detected late in the course of disease due to nonspecific symptoms. A subset of renal cell carcinoma is attributable to familial or hereditary syndromes, including von Hippel-Lindau and Birt-Hogg-Dubé syndromes, among others. Understanding of the molecular alterations in patients with familial syndromes may provide some insight into the underlying mechanisms of disease initiation and progression. This review describes the various subtypes of renal cell carcinoma and the familial syndromes associated with these tumors.
Hansel
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Deparment of Pathology, The John Hopkins University School of Medicine, Baltimore, USA. dhansel@jhmi.edu
D018249:Adenoma, Oxyphilic / Q000235:genetics / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology*; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D018450:Disease Progression; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D018231:Leiomyomatosis / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology
C454900:CDC73 protein, human; C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins