Succinate dehydrogenase-deficient renal cell carcinoma

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Succinate dehydrogenase-deficient renal cell carcinoma
Diagnosis in short

SDH-deficient renal cell carcinoma (left of image). 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
Grossing notes partial nephrectomy grossing, total nephrectomy for tumour grossing
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 in the 2016 World Health Organization classification of renal neoplasia. Previously, it was 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

  • Mass lesion - commonly cystic.

Microscopic

Features:[4]

  • Eosinophilic cells with clear (flocculent) cytoplasmic inclusions. ‡
  • Round nuclei with mildly granular chromatin pattern.
  • Intratumoural mast cells - usu. not prominent.
  • Solid architecture - typical.

Notes:

DDx:

Images

www:

Case 1

Case 2

Case 3

Pictures demonstrates the variability between different regions of the tumour:

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 +ve/35[2]).
  • AE1/AE3 -ve/+ve (4 +ve/10[4]).
  • CK20 -ve.
  • CD10 usually focal (most common) or -ve.[2]

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. 2.0 2.1 2.2 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.
  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.

External links