Classification

 clear cell renal cell carcinoma (and eosinophilic variants)
 papillary renal cell carcinomas

• type I papillary renal cell carcinoma
• type II papillary renal cell carcinoma

 chromophobe renal cell carcinoma
 collecting duct renal carcinoma (collecting duct type renal cell carcinoma)
 TFE3-associated renal cell carcinoma
 TFEB-associated renal cell carcinoma

Variants

 sarcomatoid renal cell carcinoma

• Can occur in all histologic subtypes of renal cell carcinoma

Predisposition

 von Hippel-Lindau disease (renal clear cell carcinoma)

• VHL gene mutations at 3p26

 MET germline mutations (papillary renal cell carcinoma)

 hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) (MIM.605839)

• mutations in the gene encoding fumarate hydratase (FH) (MIM.136850), an enzyme of the Krebs cycle

 paraganglioma and early-onset renal cell cacinoma

• SDHB germline mutations at 1p36-p35 (MIM.185470) (#14685938#)

 multicentric papillary renal cell carcinoma associated with renal adenomatosis
 hyperparathyroidism-jaw tumor syndrome (papillary renal cell carcinoma)
 Birt-Hogg-Dube syndrome (BHD)

References

 Cohen HT, McGovern FJ. Renal-cell carcinoma. N Engl J Med. 2005 Dec 8;353(23):2477-90. PMID: #16339096#

 Pavlovich CP, Schmidt LS. Searching for the hereditary causes of renal-cell carcinoma. Nat Rev Cancer. 2004 May;4(5):381-93. PMID: #15122209#

 Linehan WM, Walther MM, Zbar B. The genetic basis of cancer of the kidney. J Urol. 2003 Dec;170(6 Pt 1):2163-72. PMID: #14634372#

 Bodmer D, van den Hurk W, van Groningen JJ, Eleveld MJ, Martens GJ, Weterman MA, van Kessel AG. Understanding familial and non-familial renal cell cancer. Hum Mol Genet. 2002 Oct 1;11(20):2489-98. PMID: #12351585#