Wednesday, September 26, 2012

Renal Cell Carcinoma - A Reappraisal part 4


Genetics of Renal Cell Carcinoma

Kidney cancer is not a single disease but is composed of a number of different types of cancer that occur in the kidney, each caused by a different gene with a different histology (Linehan, Srinivasan, & Schmidt, 2010). There are several known kidney cancer genes: von Hipppel-Lindau (VHL), met proto-oncogene (hepatocyte growth factor receptor) (MET), folliculin (FLCN), Treacher Collins syndrome 1 (TSC1), Treacher Collins syndrome 2 (TSC2), fumarate hydratase (FH), succinate dehydrogenase (SDH), and protein polybromo- 1 (PB1) also known as BRG1-associated factor 180 (BAF180) (PBRM1) (see Table 2) (Varela et al., 2011).
Table 2. Genetics of Renal Cell Carcinoma
Type
Incidence
Origin
Cromosomal Abnormality
Gene
Clear cell
65%
Proximal tubule
Loss of 3p
VHL, PBRM1, TCS1, and TSC2
Papillary cell
15%
Proximal tubule
Trisomy 7, 16, 17
MET, FLCN, TFE3
Chromophobe cell
10%
Intercalated cell of cortical collecting duct
Hypodiploid loss of chromosomes 1,2,6,10,13,17,21
http://img.medscape.com/ornament/spcms/spacer.gif
Collecting duct carcinoma
1%
Closely related to principal cells of the medullary collecting duct and collecting duct of distal nephron
None
No consistent genetic abnormality noted
Unclassified type
5%
Varied origin
None
FH – leiomyomatosis renal cell carcinoma SDH
Notes: VHL = vonHipppel-Lindau, MET = met proto-oncogene (hepatocyte growth factor receptor), FLCN = folliculin, TFE3 = transcription factor E3, TCS1 = Treacher Collins syndrome 1, TCS2 = Treacher Collins syndrome 2, PBRM1 = Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180).
Source: Kennedy et al., 1990.

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