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Difference between revisions of "Hereditary renal cell carcinoma"
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Removed redirect to Kidney tumours#Hereditary renal cell carcinoma
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(Removed redirect to Kidney tumours#Hereditary renal cell carcinoma) Tag: Removed redirect |
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# | '''Hereditary renal cell carcinoma''' is relatively uncommon. | ||
The classics - which are ''all'' autosomal dominant:<ref name=Ref_PBoD1016>{{Ref PBoD|1016}}</ref> | |||
# [[Von Hippel-Lindau syndrome]]. | |||
#* VHL gene mutation. | |||
#* Clear cell RCC. | |||
# Hereditary [[clear cell renal cell carcinoma]]. | |||
#* VHL gene mutation. | |||
# Hereditary [[papillary renal cell carcinoma]]. | |||
#* MET proto-oncogene mutation. | |||
#* PaRCC type 1.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | |||
# [[Hereditary leiomyomatosis and renal cell cancer]]:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | |||
#* FH (fumarate hydratase) gene mutation.<ref name=omim136850>{{OMIM|136850}}</ref> | |||
#* PaRCC type 2. | |||
#* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | |||
#* Uterine [[leiomyosarcoma]]. | |||
# [[Birt–Hogg–Dubé syndrome]]:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | |||
#* FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM|135150}}</ref> | |||
#* Skin lesions (fibrofolliculoma, trichodiscoma, [[acrochordon]]). | |||
#* ChRCC most common, other types seen (e.g. [[renal oncocytoma|oncocytoma]]). | |||
#* Variable penetrance (autosomal dominant). | |||
Others: | |||
* Hereditary papillary carcinoma (TFE3 related translocations).<ref name=omim314310>{{OMIM|314310}}</ref> | |||
Notes:<br> | |||
*A total of ten hereditary renal cancer syndromes have been described. In eight of the ten the gene is known.<ref name=pmid20817385>{{Cite journal | last1 = Verine | first1 = J. | last2 = Pluvinage | first2 = A. | last3 = Bousquet | first3 = G. | last4 = Lehmann-Che | first4 = J. | last5 = de Bazelaire | first5 = C. | last6 = Soufir | first6 = N. | last7 = Mongiat-Artus | first7 = P. | title = Hereditary renal cancer syndromes: an update of a systematic review. | journal = Eur Urol | volume = 58 | issue = 5 | pages = 701-10 | month = Nov | year = 2010 | doi = 10.1016/j.eururo.2010.08.031 | PMID = 20817385 }}</ref> | |||
===Molecular=== | |||
Recurrent molecular changes in RCC: | |||
*Clear cell RCC: | |||
**Loss of 3p - contains the VHL gene. | |||
*Papillary RCC: | |||
**Sporadic: | |||
***Trisomy 7, 16, 17. | |||
***Loss of Y. | |||
**Familial: | |||
***Trisomy 7 - contains MET gene.<ref>{{OMIM|164860}}</ref> | |||
==See also== | |||
*[[Kidney tumours]]. | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Kidney tumours]] | |||