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Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome"
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Hereditary leiomyomatosis and renal cell carcinoma syndrome (view source)
Revision as of 03:45, 16 March 2016
, 03:45, 16 March 2016no edit summary
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'''Hereditary leiomyomatosis and renal cell carcinoma syndrome''' (abbreviated '''HLRCC'''), also '''hereditary leiomyomatosis and renal cell cancer''', is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.<ref name=omim136850>{{OMIM|136850}}</ref><ref name=omim150800>{{OMIM|150800}}</ref> | '''Hereditary leiomyomatosis and renal cell carcinoma syndrome''' (abbreviated '''HLRCC'''), also '''hereditary leiomyomatosis and renal cell cancer''', is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.<ref name=omim136850>{{OMIM|136850}}</ref><ref name=omim150800>{{OMIM|150800}}</ref> | ||
Characteristics: | |||
* [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | * [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | ||
* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | * Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | ||
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*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | *[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | ||
**Often aggressive and significant cause of mortality.<ref name=pmid24441663>{{Cite journal | last1 = Chen | first1 = YB. | last2 = Brannon | first2 = AR. | last3 = Toubaji | first3 = A. | last4 = Dudas | first4 = ME. | last5 = Won | first5 = HH. | last6 = Al-Ahmadie | first6 = HA. | last7 = Fine | first7 = SW. | last8 = Gopalan | first8 = A. | last9 = Frizzell | first9 = N. | title = Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. | journal = Am J Surg Pathol | volume = 38 | issue = 5 | pages = 627-37 | month = May | year = 2014 | doi = 10.1097/PAS.0000000000000163 | PMID = 24441663 }}</ref> | **Often aggressive and significant cause of mortality.<ref name=pmid24441663>{{Cite journal | last1 = Chen | first1 = YB. | last2 = Brannon | first2 = AR. | last3 = Toubaji | first3 = A. | last4 = Dudas | first4 = ME. | last5 = Won | first5 = HH. | last6 = Al-Ahmadie | first6 = HA. | last7 = Fine | first7 = SW. | last8 = Gopalan | first8 = A. | last9 = Frizzell | first9 = N. | title = Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. | journal = Am J Surg Pathol | volume = 38 | issue = 5 | pages = 627-37 | month = May | year = 2014 | doi = 10.1097/PAS.0000000000000163 | PMID = 24441663 }}</ref> | ||
Note: | |||
*The RCC in the past was typically diagnosed as ''[[papillary renal cell carcinoma]]''.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | |||
==See also== | ==See also== | ||
*[[Hereditary renal cell carcinoma]]. | *[[Hereditary renal cell carcinoma]]. | ||
==References== | ==References== | ||