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Difference between revisions of "Kidney tumours"
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→Hereditary renal cell carcinoma
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The classics - which are ''all'' autosomal dominant:<ref name=Ref_PBoD1016>{{Ref PBoD|1016}}</ref> | The classics - which are ''all'' autosomal dominant:<ref name=Ref_PBoD1016>{{Ref PBoD|1016}}</ref> | ||
# [[Von Hippel-Lindau syndrome]] (clear cell tumours). | # [[Von Hippel-Lindau syndrome]] (clear cell tumours). | ||
# Hereditary clear cell carcinoma | #* VHL gene mutation. | ||
# Hereditary papillary carcinoma | # Hereditary clear cell carcinoma. | ||
#* VHL gene mutation. | |||
# Hereditary papillary carcinoma | |||
#* MET proto-oncogene mutation. | |||
#* PaRCC type 1.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | #* 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> | # 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. | #* PaRCC type 2. | ||
#* Benign leiomyomas skin/uterus. | #* Benign leiomyomas skin/uterus. | ||
#* Uterine [[leiomyosarcoma]]. | #* Uterine [[leiomyosarcoma]]. | ||
# Birt–Hogg–Dubé syndrome:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | # Birt–Hogg–Dubé syndrome:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | ||
#* Skin lesions (fibrofolliculoma, | #* FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM|135150}}</ref> | ||
#* Skin lesions (fibrofolliculoma, trichodiscoma, [[acrochordon]]). | |||
#* ChRCC most common, other types seen. | #* ChRCC most common, other types seen. | ||
#* Variable penetrance (autosomal dominant). | #* Variable penetrance (autosomal dominant). | ||
Others: | Others: | ||
* Hereditary papillary carcinoma (TFE3 related translocations).<ref> | * Hereditary papillary carcinoma (TFE3 related translocations).<ref name=omim314310>{{OMIM|314310}}</ref> | ||
Notes:<br> | |||
*{{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 }} | *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> | ||
==Grading RCC== | ==Grading RCC== | ||