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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 05:58, 15 November 2017
, 05:58, 15 November 2017formal criteria for HLRCC
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(formal criteria for HLRCC) |
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* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | * Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | ||
* Uterine [[leiomyosarcoma]]. | * Uterine [[leiomyosarcoma]]. | ||
==Formal criteria== | |||
The diagnosis of the HLRCC syndrome requires that:<ref>{{Cite journal | last1 = Adam | first1 = MP. | last2 = Ardinger | first2 = HH. | last3 = Pagon | first3 = RA. | last4 = Wallace | first4 = SE. | last5 = Bean | first5 = LJH. | last6 = Mefford | first6 = HC. | last7 = Stephens | first7 = K. | last8 = Amemiya | first8 = A. | last9 = Ledbetter | first9 = N. | title = Hereditary Leiomyomatosis and Renal Cell Cancer | journal = | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301430 }}</ref> | |||
#A pathogenic FH mutation is present by molecular testing. | |||
#One of the following (pathologic) findings: | |||
#*Multiple cutaneous leiomyoma where one was proven histologically. | |||
#*One cutaneous leiomyoma in the context of a family history of HRLCC. | |||
#*RCC with a morphology suggestive of HRLCC syndrome-associated RCC | |||
==General== | ==General== | ||