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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 19:40, 11 October 2024
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| LMDDx = [[renal oncocytoma]], [[chromophobe renal cell carcinoma]], [[clear cell renal cell carcinoma]], other [[renal tumours with eosinophilic cytoplasm]] | | LMDDx = [[renal oncocytoma]], [[chromophobe renal cell carcinoma]], [[clear cell renal cell carcinoma]], other [[renal tumours with eosinophilic cytoplasm]] | ||
| Stains = | | Stains = | ||
| IHC = SDHB -ve, CK7 -ve, CD117 -ve, PAX8 +ve | | IHC = SDHB -ve, CK7 -ve, CD117 -ve, PAX8 +ve, CA9 -ve | ||
| EM = | | EM = | ||
| Molecular = | | Molecular = | ||
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'''Succinate dehydrogenase-deficient renal cell carcinoma''', also '''[[succinate dehydrogenase]] renal cell carcinoma''' (abbreviated '''SDH-RCC'''), is a very rare type of [[renal cell carcinoma]]. | '''Succinate dehydrogenase-deficient renal cell carcinoma''', also '''[[succinate dehydrogenase]] renal cell carcinoma''' (abbreviated '''SDH-RCC'''), is a very rare type of [[renal cell carcinoma]]. | ||
It is | It is in the 2016 World Health Organization classification of renal neoplasia. | ||
==General== | ==General== | ||
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*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> | *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> | ||
**SDHC has been described.<ref name=pmid23083876/> | **SDHC has been described.<ref name=pmid23083876/> | ||
<!-- **SDHD has been described.{{fact}} --> | <!-- **SDHD has been described.{{fact}} --> | ||
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*‡ Occasional cells may look like [[signet ring cells]]. | *‡ Occasional cells may look like [[signet ring cells]]. | ||
*Typically low [[ISUP nucleolar grade]]. | *Typically low [[ISUP nucleolar grade]]. | ||
**May be sarcomatoid. | **May be [[renal cell carcinoma with sarcomatoid differentiation|sarcomatoid]]. | ||
DDx: | DDx: | ||
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==IHC== | ==IHC== | ||
Features: | Features: | ||
*SDHB -ve (11 of 11 cases<ref name=pmid25034258 | *SDHB -ve (11 of 11 cases<ref name=pmid25034258/>). | ||
**Normal tubules +ve. | **Normal tubules +ve. | ||
**May be (pseudo)negative in clear cells (as few mitochondria). | **May be (pseudo)negative in clear cells (as few mitochondria). | ||
*CD117 -ve - '''important'''. | *CD117 -ve - '''important'''. | ||
*CA9 -ve. | |||
Others: | Others: | ||
*PAX8 +ve. | *PAX8 +ve. | ||
*EMA +ve (10/10<ref name=pmid25034258/>). | *EMA +ve (10/10<ref name=pmid25034258/>). | ||
*CK7 -ve (1 +ve/35<name=pmid25025441/>). | *CK7 -ve (1 +ve/35<ref name=pmid25025441/>). | ||
*AE1/AE3 -ve/+ve (4 +ve/10<ref name=pmid25034258/>). | *AE1/AE3 -ve/+ve (4 +ve/10<ref name=pmid25034258/>). | ||
*CK20 -ve. | *CK20 -ve. | ||