Journal
SEMINARS IN ONCOLOGY
Volume 43, Issue 5, Pages 566-574Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.seminoncol.2016.09.001
Keywords
Von Hippel-Lindau; Hereditary papillary renal carcinoma; Birt-Hogg-Dube syndrome; Hereditary leiomyomatosis and renal cell carcinoma; Kidney neoplasms; Inherited renal cancer syndromes
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Funding
- Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research
- Federal funds from Frederick National Laboratory for Cancer Research, National Institutes of Health [HHSN261200800001E]
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Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube'syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase associated renal cancer were identified. Recently, renal cell carcinoma has been confirmed as part of the clinical phenotype in individuals from families with BAPI-associated tumor predisposition syndrome and MiTF-associated cancer syndrome. Here we summarize the clinical characteristics of and causative genes for these and other inherited RCC syndromes, the pathways that are dysregulated when the inherited genes are mutated, and recommended clinical management of patients with these inherited renal cancer syndromes. Published by Elsevier Inc.
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