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Difference between revisions of "Succinate dehydrogenase-deficient renal cell carcinoma"
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Succinate dehydrogenase-deficient renal cell carcinoma (view source)
Revision as of 05:20, 5 May 2015
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==General== | ==General== | ||
*Extremely rare - only approximately 10 cases described as of 2012.<ref name=pmid24025519/> | *Extremely rare - only approximately 10 cases described as of 2012.<ref name=pmid24025519/> | ||
*May be assocated with [[paraganglioma]] and familial | *May be assocated with [[paraganglioma]] and familial, as with several SDH mutations.<ref name=pmid25800244>{{Cite journal | last1 = Hernandez | first1 = KG. | last2 = Ezzat | first2 = S. | last3 = Morel | first3 = CF. | last4 = Swallow | first4 = C. | last5 = Otremba | first5 = M. | last6 = Dickson | first6 = BC. | last7 = Asa | first7 = SL. | last8 = Mete | first8 = O. | title = Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association. | journal = Virchows Arch | volume = | issue = | pages = | month = Mar | year = 2015 | doi = 10.1007/s00428-015-1755-2 | PMID = 25800244 }}</ref> | ||
*Primarily described with a ''SDHB mutation''.<ref name=pmid25034258/> | *Primarily described with a ''SDHB mutation''.<ref name=pmid25034258/> | ||
**SDHA has been described.<ref name=pmid25034258 >{{Cite journal | last1 = Williamson | first1 = SR. | last2 = Eble | first2 = JN. | last3 = Amin | first3 = MB. | last4 = Gupta | first4 = NS. | last5 = Smith | first5 = SC. | last6 = Sholl | first6 = LM. | last7 = Montironi | first7 = R. | last8 = Hirsch | first8 = MS. | last9 = Hornick | first9 = JL. | title = Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. | journal = Mod Pathol | volume = 28 | issue = 1 | pages = 80-94 | month = Jan | year = 2015 | doi = 10.1038/modpathol.2014.86 | PMID = 25034258 }}</ref> | **SDHA has been described.<ref name=pmid25034258 >{{Cite journal | last1 = Williamson | first1 = SR. | last2 = Eble | first2 = JN. | last3 = Amin | first3 = MB. | last4 = Gupta | first4 = NS. | last5 = Smith | first5 = SC. | last6 = Sholl | first6 = LM. | last7 = Montironi | first7 = R. | last8 = Hirsch | first8 = MS. | last9 = Hornick | first9 = JL. | title = Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. | journal = Mod Pathol | volume = 28 | issue = 1 | pages = 80-94 | month = Jan | year = 2015 | doi = 10.1038/modpathol.2014.86 | PMID = 25034258 }}</ref> | ||