Difference between revisions of "Succinate dehydrogenase-deficient renal cell carcinoma"
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| Site = [[kidney]] - see ''[[kidney tumours]]'' | | Site = [[kidney]] - see ''[[kidney tumours]]'' | ||
| Assdx = | | Assdx = | ||
| Syndromes = | | Syndromes = familial pheochromocytoma and renal cell carcinoma syndrome | ||
| Clinicalhx = | | Clinicalhx = | ||
| Signs = | | Signs = | ||
| Line 36: | Line 36: | ||
==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 (as with several SDH mutations).<ref name=pmid25800244/> | *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. | <!-- **SDHD has been described.{{fact}} --> | ||
*Usually good prognosis. | *Usually good prognosis. | ||
Revision as of 05:28, 3 May 2015
| Succinate dehydrogenase-deficient renal cell carcinoma | |
|---|---|
| Diagnosis in short | |
 SDH-deficient renal cell carcinoma. H&E stain. | |
|
| |
| LM | eosinophilic cells with clear (flocculent) cytoplasmic inclusions, round nuclei with mildly granular chromatin pattern, intratumoural mast cells, solid architecture |
| LM DDx | renal oncocytoma, chromophobe renal cell carcinoma, clear cell renal cell carcinoma, ther renal tumours with eosinophilic cytoplasm |
| Stains | SDHB -ve, CK7 -ve, CD117 -ve, PAX8 +ve |
| Gross | mass lesion, commonly cystic |
| Site | kidney - see kidney tumours |
|
| |
| Syndromes | familial pheochromocytoma and renal cell carcinoma syndrome |
|
| |
| Prevalence | extremely rare |
| Prognosis | usually good prognosis (limited data) |
| Clin. DDx | other kidney tumours |
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 grouped in the emerging entities of the Vancouver modification of the 2004 WHO classification of renal neoplasia.[1]
General
- Extremely rare - only approximately 10 cases described as of 2012.[1]
- May be assocated with paraganglioma and familial (as with several SDH mutations).[2]
- Primarily described with a SDHB mutation.[3]
- Usually good prognosis.
Gross
- Commonly cystic.
Microscopic
Features:[3]
- Eosinophilic cells with clear (flocculent) cytoplasmic inclusions. ‡
- Round nuclei with mildly granular chromatin pattern.
- Intratumoural mast cells.
- Solid architecture.
Notes:
- ‡ Occasional cells may look like signet ring cells.
- Typically low ISUP nucleolar grade.
- May be sarcomatoid.
DDx:
- Renal oncocytoma - granular cytoplasm.
- Chromophobe renal cell carcinoma.
- Clear cell renal cell carcinoma.
- Other renal tumours with eosinophilic cytoplasm.
Images
www:
- SDHB-RCC - poor quality histology image (nih.gov).[4]
- SDHC-RCC (nih.gov).[4]
- SDH-deficient RCC (nature.com).[3]
Case 1
SDH-RCC low mag.
SDH-RCC intermed. mag.
SDH-RCC intermed. mag.
SDH-RCC high mag.
SDH-RCC very high mag.
Case 2
SDH-RCC intermed. mag.
SDH-RCC high mag.
SDH-RCC very high mag.
IHC
Features:
- SDHB -ve (11 of 11 cases[3]).
- Normal tubules +ve.
- May be (pseudo)negative in clear cells (as few mitochondria).
- CD117 -ve - important.
Others:
- PAX8 +ve.
- CK7 -ve (1/35).
See also
References
- ↑ 1.0 1.1 Srigley, JR.; Delahunt, B.; Eble, JN.; Egevad, L.; Epstein, JI.; Grignon, D.; Hes, O.; Moch, H. et al. (Oct 2013). "The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia.". Am J Surg Pathol 37 (10): 1469-89. doi:10.1097/PAS.0b013e318299f2d1. PMID 24025519.
- ↑ Hernandez, KG.; Ezzat, S.; Morel, CF.; Swallow, C.; Otremba, M.; Dickson, BC.; Asa, SL.; Mete, O. (Mar 2015). "Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.". Virchows Arch. doi:10.1007/s00428-015-1755-2. PMID 25800244.
- ↑ 3.0 3.1 3.2 3.3 3.4 Williamson, SR.; Eble, JN.; Amin, MB.; Gupta, NS.; Smith, SC.; Sholl, LM.; Montironi, R.; Hirsch, MS. et al. (Jan 2015). "Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma.". Mod Pathol 28 (1): 80-94. doi:10.1038/modpathol.2014.86. PMID 25034258. Cite error: Invalid
<ref>tag; name "pmid25034258" defined multiple times with different content - ↑ 4.0 4.1 4.2 Ricketts, CJ.; Shuch, B.; Vocke, CD.; Metwalli, AR.; Bratslavsky, G.; Middelton, L.; Yang, Y.; Wei, MH. et al. (Dec 2012). "Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.". J Urol 188 (6): 2063-71. doi:10.1016/j.juro.2012.08.030. PMID 23083876.