Difference between revisions of "Succinate dehydrogenase-deficient renal cell carcinoma"

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==General==
==General==
*Extremely rare - only approximately 10 cases described as of 2012.<ref name=pmid24025519/>
*Extremely rare - estimated to represent up to 0.2% of [[renal cell carcinoma]]s.<ref name=pmid25025441>{{Cite journal  | last1 = Gill | first1 = AJ. | last2 = Hes | first2 = O. | last3 = Papathomas | first3 = T. | last4 = Šedivcová | first4 = M. | last5 = Tan | first5 = PH. | last6 = Agaimy | first6 = A. | last7 = Andresen | first7 = PA. | last8 = Kedziora | first8 = A. | last9 = Clarkson | first9 = A. | title = Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. | journal = Am J Surg Pathol | volume = 38 | issue = 12 | pages = 1588-602 | month = Dec | year = 2014 | doi = 10.1097/PAS.0000000000000292 | PMID = 25025441 }}</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>
*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/>

Revision as of 05:00, 12 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, other renal tumours with eosinophilic cytoplasm
IHC 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 - estimated to represent up to 0.2% of renal cell carcinomas.[2]
  • May be assocated with paraganglioma and familial, as with several SDH mutations.[3]
  • Primarily described with a SDHB mutation.[4]
    • SDHA has been described.[4]
    • SDHC has been described.[5]
  • Usually good prognosis.

Gross

  • Commonly cystic.

Microscopic

Features:[4]

  • Eosinophilic cells with clear (flocculent) cytoplasmic inclusions. ‡
  • Round nuclei with mildly granular chromatin pattern.
  • Intratumoural mast cells.
  • Solid architecture.

Notes:

DDx:

Images

www:

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[4]).
    • Normal tubules +ve.
    • May be (pseudo)negative in clear cells (as few mitochondria).
  • CD117 -ve - important.

Others:

  • PAX8 +ve.
  • EMA +ve (10/10[4]).
  • CK7 -ve (1/35).
  • AE1/AE3 -ve/+ve (4 +ve/10[4]).

See also

References

  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.
  2. ↑ Gill, AJ.; Hes, O.; Papathomas, T.; Šedivcová, M.; Tan, PH.; Agaimy, A.; Andresen, PA.; Kedziora, A. et al. (Dec 2014). "Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.". Am J Surg Pathol 38 (12): 1588-602. doi:10.1097/PAS.0000000000000292. PMID 25025441.
  3. ↑ 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.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 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
  5. ↑ 5.0 5.1 5.2 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.
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