Difference between revisions of "Fumarate hydratase-deficient renal cell carcinoma"

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Fumarate hydratase-deficient renal cell carcinoma (view source)

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| Micro      = cells with large (usually eosinophilic) nucleolus with perinucleolar clearing (may be focal), variable architecture: papillary (classic description) +/-hyaline material within the fibrovascular cores (characteristic), tubulopapillary, tubular, solid, sieve-like pattern/cribriform
| Micro      = cells with large (usually eosinophilic) nucleolus with perinucleolar clearing (may be focal), variable architecture: papillary (classic description) +/-hyaline material within the fibrovascular cores (characteristic), tubulopapillary, tubular, solid, sieve-like pattern/cribriform
| Subtypes  =
| Subtypes  =
| LMDDx      = [[papillary renal cell carcinoma]] (type 2), [[tubulocystic carcinoma of the kidney]], [[collecting duct carcinoma]], [[renal medullary carcinoma]]
| LMDDx      = [[papillary renal cell carcinoma]], [[tubulocystic carcinoma of the kidney]], [[collecting duct carcinoma]], [[renal medullary carcinoma]]
| Stains    =
| Stains    =
| IHC        = FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve
| IHC        = FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve
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| Tx        = resection
| Tx        = resection
}}
}}
'''Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma''' (abbreviated '''HLRCC syndrome-associated RCC''') is a [[cancer|malignant]] epithelial tumour of the [[kidney]] associated with the [[hereditary leiomyomatosis and renal cell carcinoma syndrome]].
'''Fumarate hydratase-deficient renal cell carcinoma''' (abbreviated '''FH-deficient RCC''') is a formally recognized a distinct entity by the [[WHO]] as of 2013.


It is formally recognized a distinct entity by the [[WHO]] as of 2013.<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>
It was previously known as '''hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma''' (abbreviated '''HLRCC syndrome-associated RCC''').<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><ref name=pmid26900816>{{Cite journal  | last1 = Trpkov | first1 = K. | last2 = Hes | first2 = O. | last3 = Agaimy | first3 = A. | last4 = Bonert | first4 = M. | last5 = Martinek | first5 = P. | last6 = Magi-Galluzzi | first6 = C. | last7 = Kristiansen | first7 = G. | last8 = Lüders | first8 = C. | last9 = Nesi | first9 = G. | title = Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. | journal = Am J Surg Pathol | volume =  | issue =  | pages =  | month = Feb | year = 2016 | doi = 10.1097/PAS.0000000000000617 | PMID = 26900816 }}</ref>  
 
'''Fumarate hydratase-deficient renal cell carcinoma''' (abbreviated '''FH-deficient RCC''') redirects here. It is a term used when pathologic criteria suggest ''HLRCC syndrome-associated RCC'', but clinical criteria for HLRCC syndrome are not met ''or'' the clinical information is not available.<ref name=pmid26900816>{{Cite journal  | last1 = Trpkov | first1 = K. | last2 = Hes | first2 = O. | last3 = Agaimy | first3 = A. | last4 = Bonert | first4 = M. | last5 = Martinek | first5 = P. | last6 = Magi-Galluzzi | first6 = C. | last7 = Kristiansen | first7 = G. | last8 = Lüders | first8 = C. | last9 = Nesi | first9 = G. | title = Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. | journal = Am J Surg Pathol | volume =  | issue =  | pages =  | month = Feb | year = 2016 | doi = 10.1097/PAS.0000000000000617 | PMID = 26900816 }}</ref>  


==General==
==General==
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DDx:
DDx:
*[[Papillary renal cell carcinoma]] (type 2).
*[[Papillary renal cell carcinoma]].
*[[Tubulocystic carcinoma of the kidney]].
*[[Tubulocystic carcinoma of the kidney]].
*[[Collecting duct carcinoma]].<ref name=pmid16597677>{{Cite journal  | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref>
*[[Collecting duct carcinoma]].<ref name=pmid16597677>{{Cite journal  | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref>
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==References==
==References==
{{Reflist|1}}
{{Reflist|2}}


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