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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 06:11, 15 November 2017
, 06:11, 15 November 2017→Formal criteria
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==Formal criteria== | ==Formal criteria== | ||
The diagnosis of the HLRCC syndrome requires | The diagnosis of the HLRCC syndrome requires both #1 and #2:<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. | #A pathogenic FH mutation is present by molecular testing. | ||
#One of the following (pathologic) findings: | #One of the following (pathologic) findings: | ||