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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 18:58, 24 March 2024
, 24 Marchno edit summary
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Characteristics: | Characteristics: | ||
* [[ | * [[Fumarate hydratase-deficient renal cell carcinoma]]. | ||
* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | * Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | ||
* Uterine [[leiomyosarcoma]]. | * Uterine [[leiomyosarcoma]]. | ||
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#One of the following (pathologic) findings: | #One of the following (pathologic) findings: | ||
#*Multiple cutaneous leiomyoma where one was proven histologically. | #*Multiple cutaneous leiomyoma where one was proven histologically. | ||
#*One cutaneous leiomyoma in the context of a family history of | #*One cutaneous leiomyoma in the context of a family history of HLRCC. | ||
#*RCC with a morphology suggestive of HRLCC syndrome-associated RCC. | #*RCC with a morphology suggestive of HRLCC syndrome-associated RCC. | ||
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Note: | Note: | ||
*The RCC in the past was typically diagnosed as ''[[papillary renal cell carcinoma]]''.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | *The RCC in the past was typically diagnosed as ''[[papillary renal cell carcinoma]]''.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | ||
*Case reports describing an association with [[adrenal cortical carcinoma]].<ref>{{cite journal |authors=Silverman E, Addasi N, Azzawi M, Duarte EM, Huang D, Swanson B, Ganti AK, Reiser G, Fingeret AL, Kotwal A |title=Recurrent Cushing Syndrome From Metastatic Adrenocortical Carcinoma With Fumarate Hydratase Allelic Variant |journal=AACE Clin Case Rep |volume=8 |issue=6 |pages=259–263 |date=2022 |pmid=36447829 |pmc=9701913 |doi=10.1016/j.aace.2022.09.003 |url=}}</ref> | |||
==See also== | ==See also== | ||