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

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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]] that is grouped in the ''emerging entities'' of the ''[[Vancouver classification|Vancouver modification of the 2004 WHO classification of renal neoplasia]]''.<ref name=pmid24025519>{{Cite journal  | last1 = Srigley | first1 = JR. | last2 = Delahunt | first2 = B. | last3 = Eble | first3 = JN. | last4 = Egevad | first4 = L. | last5 = Epstein | first5 = JI. | last6 = Grignon | first6 = D. | last7 = Hes | first7 = O. | last8 = Moch | first8 = H. | last9 = Montironi | first9 = R. | title = The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. | journal = Am J Surg Pathol | volume = 37 | issue = 10 | pages = 1469-89 | month = Oct | year = 2013 | doi = 10.1097/PAS.0b013e318299f2d1 | PMID = 24025519 }}</ref>
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = SDH-deficient_renal_cell_carcinoma_-_high_mag.jpg
| Width      =
| Caption    = SDH-deficient renal cell carcinoma (left of image). [[H&E stain]].
| Synonyms  =
| Micro      = eosinophilic cells with clear (flocculent) cytoplasmic inclusions, round nuclei with mildly granular chromatin pattern, intratumoural [[mast cell]]s, solid architecture
| Subtypes  =
| LMDDx      = [[renal oncocytoma]], [[chromophobe renal cell carcinoma]], [[clear cell renal cell carcinoma]], other [[renal tumours with eosinophilic cytoplasm]]
| Stains    =  
| IHC        = SDHB -ve, CK7 -ve, CD117 -ve, PAX8 +ve, CA9 -ve
| EM        =
| Molecular  =
| IF        =
| Gross      = mass lesion, commonly cystic
| Grossing  = [[partial nephrectomy grossing]], [[total nephrectomy for tumour grossing]]
| Site      = [[kidney]] - see ''[[kidney tumours]]''
| Assdx      =
| Syndromes  = familial pheochromocytoma and renal cell carcinoma syndrome
| Clinicalhx =  
| Signs      =
| Symptoms  =
| Prevalence = extremely rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = usually good prognosis (limited data)
| Other      =
| ClinDDx    = other [[kidney tumours]]
| Tx        =
}}
'''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.


==General==
==General==
*Extremely rare - only approximately 10 described in 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]] (as with SDH mutations).
*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/>
**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/>
<!-- **SDHD has been described.{{fact}} -->
*Usually good prognosis.
 
==Gross==
*Mass lesion - commonly cystic.


==Microscopic==
==Microscopic==
Features:<ref name=pmid25034258/>
Features:<ref name=pmid25034258/>
*Oncocytic cells with flocculent cytoplasmic inclusions.
*Eosinophilic cells with clear (flocculent) cytoplasmic inclusions. ‡
*Intratumoural [[mast cell]]s.
*Round nuclei with mildly granular chromatin pattern.
*Solid architecture.
*Intratumoural [[mast cell]]s - usu. not prominent.
*Solid architecture - typical.
 
Notes:
*‡ Occasional cells may look like [[signet ring cells]].
*Typically low [[ISUP nucleolar grade]].
**May be [[renal cell carcinoma with sarcomatoid differentiation|sarcomatoid]].


DDx:
DDx:
*[[Renal oncocytoma]].
*[[Renal oncocytoma]] - granular cytoplasm.
*[[Chromophobe renal cell carcinoma]].
*[[Chromophobe renal cell carcinoma]].
*[[Clear cell renal cell carcinoma]].
*[[Clear cell renal cell carcinoma]].
*Other [[renal tumours with eosinophilic cytoplasm]].


===Images===
===Images===
www:
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856891/figure/F3/ SDHB-RCC - poor quality histology image (nih.gov)].<ref name=pmid23083876/>
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856891/figure/F3/ SDHB-RCC - poor quality histology image (nih.gov)].<ref name=pmid23083876/>
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856891/figure/F6/ SDHC-RCC (nih.gov)].<ref name=pmid23083876>{{Cite journal  | last1 = Ricketts | first1 = CJ. | last2 = Shuch | first2 = B. | last3 = Vocke | first3 = CD. | last4 = Metwalli | first4 = AR. | last5 = Bratslavsky | first5 = G. | last6 = Middelton | first6 = L. | last7 = Yang | first7 = Y. | last8 = Wei | first8 = MH. | last9 = Pautler | first9 = SE. | title = Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. | journal = J Urol | volume = 188 | issue = 6 | pages = 2063-71 | month = Dec | year = 2012 | doi = 10.1016/j.juro.2012.08.030 | PMID = 23083876 }}</ref>
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856891/figure/F6/ SDHC-RCC (nih.gov)].<ref name=pmid23083876>{{Cite journal  | last1 = Ricketts | first1 = CJ. | last2 = Shuch | first2 = B. | last3 = Vocke | first3 = CD. | last4 = Metwalli | first4 = AR. | last5 = Bratslavsky | first5 = G. | last6 = Middelton | first6 = L. | last7 = Yang | first7 = Y. | last8 = Wei | first8 = MH. | last9 = Pautler | first9 = SE. | title = Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. | journal = J Urol | volume = 188 | issue = 6 | pages = 2063-71 | month = Dec | year = 2012 | doi = 10.1016/j.juro.2012.08.030 | PMID = 23083876 }}</ref>
*[http://www.nature.com/modpathol/journal/v28/n1/fig_tab/modpathol201486f2.html SDH-deficient RCC (nature.com)].<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>
====Case 1====
<gallery>
Image: SDH-deficient renal cell carcinoma - low mag.jpg | SDH-RCC low mag.
Image: SDH-deficient renal cell carcinoma - intermed mag.jpg | SDH-RCC intermed. mag.
Image: SDH-deficient renal cell carcinoma - alt - intermed mag.jpg | SDH-RCC intermed. mag.
Image: SDH-deficient renal cell carcinoma - high mag.jpg | SDH-RCC high mag.
Image: SDH-deficient renal cell carcinoma - very high mag.jpg | SDH-RCC very high mag.
</gallery>
====Case 2====
<gallery>
Image: SDH-deficient renal cell carcinoma -2- intermed mag.jpg | SDH-RCC intermed. mag.
Image: SDH-deficient renal cell carcinoma -2- high mag.jpg | SDH-RCC high mag.
Image: SDH-deficient renal cell carcinoma -2- very high mag.jpg | SDH-RCC very high mag.
</gallery>
====Case 3====
Pictures demonstrates the variability between different regions of the tumour:
<gallery>
Image: SDH-RCC - 3 - characteristic - low mag.jpg | SDH-RCC - low mag.
Image: SDH-RCC - 3 - characteristic - intermed mag.jpg | SDH-RCC - intermed. mag.
Image: SDH-RCC - 3 - characteristic - high mag.jpg | SDH-RCC - high mag.
Image: SDH-RCC - 3 - myxoid change - low mag.jpg | SDH-RCC - low mag.
Image: SDH-RCC - 3 - myxoid change - intermed mag.jpg | SDH-RCC - intermed. mag.
Image: SDH-RCC - 3 - myxoid change - high mag.jpg | SDH-RCC - high mag.
Image: SDH-RCC - 3 - pseudo-oncocytes - low mag.jpg | SDH-RCC - low mag.
Image: SDH-RCC - 3 - pseudo-oncocytes - intermed mag.jpg | SDH-RCC - intermed. mag.
Image: SDH-RCC - 3 - pseudo-oncocytes - high mag.jpg | SDH-RCC - high mag.
</gallery>


==IHC==
==IHC==
Features:
Features:
*SDHB -ve (11 of 11 cases<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 =  | issue =  | pages =  | month = Jul | year = 2014 | doi = 10.1038/modpathol.2014.86 | PMID = 25034258 }}</ref>).
*SDHB -ve (11 of 11 cases<ref name=pmid25034258/>).
*CD117 -ve.
**Normal tubules +ve.
**May be (pseudo)negative in clear cells (as few mitochondria).
*CD117 -ve - '''important'''.
*CA9 -ve.
 
Others:
*PAX8 +ve.
*EMA +ve (10/10<ref name=pmid25034258/>).
*CK7 -ve (1 +ve/35<ref name=pmid25025441/>).
*AE1/AE3 -ve/+ve (4 +ve/10<ref name=pmid25034258/>).
*CK20 -ve.
*CD10 usually focal (most common) or -ve.<ref name=pmid25025441/>


==See also==
==See also==
*[[Kidney tumours]].
*[[Kidney tumours]].
*[[Succinate dehydrogenase]].


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
==External links==
*[http://www.cancerdxpathology.org.au/virtual-sdh-rc.html Succinate dehydrogenase-deficient renal carcinoma (cancerdxpathology.org.au)] - virtual slides from Gill.


[[Category:Kidney tumours]]
[[Category:Kidney tumours]]
[[Category:Diagnosis]]
[[Category:Diagnosis]]

Latest revision as of 19:40, 11 October 2024

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, CA9 -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.

General

  • Extremely rare - estimated to represent up to 0.2% of renal cell carcinomas.[1]
  • May be assocated with paraganglioma and familial, as with several SDH mutations.[2]
  • Primarily described with a SDHB mutation.[3]
    • SDHA has been described.[3]
    • SDHC has been described.[4]
  • Usually good prognosis.

Gross

  • Mass lesion - commonly cystic.

Microscopic

Features:[3]

  • 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

  • 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.

Case 3

Pictures demonstrates the variability between different regions of the tumour:

  • SDH-RCC - low mag.

  • SDH-RCC - intermed. mag.

  • SDH-RCC - high mag.

  • SDH-RCC - low mag.

  • SDH-RCC - intermed. mag.

  • SDH-RCC - high mag.

  • SDH-RCC - low mag.

  • SDH-RCC - intermed. mag.

  • SDH-RCC - 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.
  • CA9 -ve.

Others:

  • PAX8 +ve.
  • EMA +ve (10/10[3]).
  • CK7 -ve (1 +ve/35[1]).
  • AE1/AE3 -ve/+ve (4 +ve/10[3]).
  • CK20 -ve.
  • CD10 usually focal (most common) or -ve.[1]

See also

References

  1. ↑ 1.0 1.1 1.2 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.
  2. ↑ 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. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 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.
  4. ↑ 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.

External links

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