Fumarate hydratase-deficient renal cell carcinoma: Difference between revisions
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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]] | | 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 | ||
}} | }} | ||
'''Fumarate hydratase-deficient renal cell carcinoma''' (abbreviated '''FH-deficient RCC''') is a formally recognized a distinct entity by the [[WHO]] as of 2013. | '''Fumarate hydratase-deficient renal cell carcinoma''' (abbreviated '''FH-deficient RCC''') is a formally recognized a distinct entity by the [[WHO]] as of 2013. | ||
It was previously known as '''hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma''' (abbreviated '''HLRCC syndrome-associated RCC'''). | 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> | ||
==General== | ==General== | ||
*Often aggressive - significant cause of mortality.<ref name=pmid24441663>{{Cite journal | last1 = Chen | first1 = YB. | last2 = Brannon | first2 = AR. | last3 = Toubaji | first3 = A. | last4 = Dudas | first4 = ME. | last5 = Won | first5 = HH. | last6 = Al-Ahmadie | first6 = HA. | last7 = Fine | first7 = SW. | last8 = Gopalan | first8 = A. | last9 = Frizzell | first9 = N. | title = Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. | journal = Am J Surg Pathol | volume = 38 | issue = 5 | pages = 627-37 | month = May | year = 2014 | doi = 10.1097/PAS.0000000000000163 | PMID = 24441663 }}</ref> | *Often aggressive - significant cause of mortality.<ref name=pmid24441663>{{Cite journal | last1 = Chen | first1 = YB. | last2 = Brannon | first2 = AR. | last3 = Toubaji | first3 = A. | last4 = Dudas | first4 = ME. | last5 = Won | first5 = HH. | last6 = Al-Ahmadie | first6 = HA. | last7 = Fine | first7 = SW. | last8 = Gopalan | first8 = A. | last9 = Frizzell | first9 = N. | title = Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. | journal = Am J Surg Pathol | volume = 38 | issue = 5 | pages = 627-37 | month = May | year = 2014 | doi = 10.1097/PAS.0000000000000163 | PMID = 24441663 }}</ref> | ||
*See ''[[hereditary leiomyomatosis and renal cell carcinoma syndrome]]''. | *See ''[[hereditary leiomyomatosis and renal cell carcinoma syndrome]]''. | ||
*Small tumours in the context of HLRCC may metastasize.<ref name=pmid17509289>{{cite journal |authors=Grubb RL, Franks ME, Toro J, Middelton L, Choyke L, Fowler S, Torres-Cabala C, Glenn GM, Choyke P, Merino MJ, Zbar B, Pinto PA, Srinivasan R, Coleman JA, Linehan WM |title=Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer |journal=J Urol |volume=177 |issue=6 |pages=2074–9; discussion 2079–80 |date=June 2007 |pmid=17509289 |doi=10.1016/j.juro.2007.01.155 |url=}}</ref> | |||
==Microscopic== | ==Microscopic== | ||
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DDx: | DDx: | ||
*[[Papillary renal cell carcinoma]] | *[[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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==See also== | ==See also== | ||
*[[Vancouver classification]] | *[[Vancouver classification]]. | ||
*[[Sex cord-stromal tumours]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Kidney tumours]] | [[Category:Kidney tumours]] | ||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||