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| {{ Infobox diagnosis
| | #redirect [[Fumarate hydratase-deficient renal cell carcinoma]] |
| | Name = {{PAGENAME}}
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| | Image = Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg
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| | Width =
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| | Caption = [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]] showing the characteristic hyalinized papillary cores. [[H&E stain]]. (WC/Nephron)
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| | Synonyms =
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| | Micro = large 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
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| | Subtypes =
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| | LMDDx = [[papillary renal cell carcinoma]] (type 2), [[tubulocystic carcinoma of the kidney]], [[collecting duct carcinoma]], [[renal medullary carcinoma]]
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| | Stains =
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| | IHC = FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve
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| | EM =
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| | Molecular = FH mutation
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| | IF =
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| | Gross =
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| | Grossing = [[total nephrectomy for tumour grossing]], [[partial nephrectomy grossing]]
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| | Staging = [[kidney cancer staging]]
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| | Site = [[kidney]] - see ''[[kidney tumours]]''
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| | Assdx = [[uterine leiomyoma]]s (women), skin [[leiomyoma]]s
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| | Syndromes = [[hereditary leiomyomatosis and renal cell carcinoma syndrome]]
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| | Clinicalhx = +/-family history of kidney cancer
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| | Signs = +/-"skin rash", signs of renal cancer (+/-hematuria, +/-palpable abdominal mass)
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| | Symptoms =
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| | Prevalence = rare
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| | Bloodwork =
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| | Rads =
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| | Endoscopy =
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| | Prognosis = poor
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| | Other =
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| | ClinDDx = other [[kidney tumours]]
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| | Tx = resection
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| }}
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| '''Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma''' is a malignant epithelial tumour of the [[kidney]] associated with the [[hereditary leiomyomatosis and renal cell carcinoma syndrome]].
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| 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>
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| ==General==
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| *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>
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| *See ''[[hereditary leiomyomatosis and renal cell carcinoma syndrome]]''.
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| ==Microscopic==
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| Features - renal cell carcinoma:<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>
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| *Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - '''important'''.
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| **May be focal.
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| *Variable architecture:
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| **Papillary - classic description.
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| ***Hyaline material within the fibrovascular cores - '''characteristic'''.
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| **Tubulopapillary.
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| **Tubular.
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| **Solid.
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| **[[Sieve-like pattern]]/[[cribriform]].
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| Notes:
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| *Not common: [[psammoma bodies]], foamy macrophages.<ref name=pmid11248088>{{Cite journal | last1 = Launonen | first1 = V. | last2 = Vierimaa | first2 = O. | last3 = Kiuru | first3 = M. | last4 = Isola | first4 = J. | last5 = Roth | first5 = S. | last6 = Pukkala | first6 = E. | last7 = Sistonen | first7 = P. | last8 = Herva | first8 = R. | last9 = Aaltonen | first9 = LA. | title = Inherited susceptibility to uterine leiomyomas and renal cell cancer. | journal = Proc Natl Acad Sci U S A | volume = 98 | issue = 6 | pages = 3387-92 | month = Mar | year = 2001 | doi = 10.1073/pnas.051633798 | PMID = 11248088 }}</ref>
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| DDx:
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| *[[Papillary renal cell carcinoma]] (type 2).
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| *[[Tubulocystic carcinoma of the kidney]].
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| *[[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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| *[[Renal medullary carcinoma]] - cells also have a [[prominent nucleoli|prominent nucleolus]].
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| ===Images===
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| ====RCC====
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| <gallery>
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- low mag.jpg | HLRCC - low mag. (WC)
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- intermed mag.jpg | HLRCC - intermed mag. (WC)
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg | HLRCC - high mag. (WC)
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - alt -- high mag.jpg | HLRCC - high mag. (WC)
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- very high mag.jpg | HLRCC - very high mag. (WC)
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - alt -- very high mag.jpg | HLRCC - very high mag. (WC)
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| </gallery>
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| <gallery>
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- low mag.jpg | HLRCC - [[tubulocystic carcinoma of the kidney|TC-like]] - low mag.
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- intermed mag.jpg | HLRCC - TC-like - intermed mag.
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- high mag.jpg | HLRCC - TC-like - high mag.
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| Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- very high mag.jpg | HLRCC - TC-like - very high mag.
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| </gallery>
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| ====www====
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| *[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC30663/figure/F3/ RCC in HLRCC (nih.gov)].<ref name=pmid11248088/>
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| ==IHC==
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| *Fumarate hydratase (FH) -ve.
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| *2SC +ve -- cytoplasmic,<ref name=pmid24309325 >{{Cite journal | last1 = Reyes | first1 = C. | last2 = Karamurzin | first2 = Y. | last3 = Frizzell | first3 = N. | last4 = Garg | first4 = K. | last5 = Nonaka | first5 = D. | last6 = Chen | first6 = YB. | last7 = Soslow | first7 = RA. | title = Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry. | journal = Mod Pathol | volume = 27 | issue = 7 | pages = 1020-7 | month = Jul | year = 2014 | doi = 10.1038/modpathol.2013.215 | PMID = 24309325 }}</ref> cytoplasmic and nuclear.<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>
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| **2SC = S-(2-succino)-cysteine.
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| Others:
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| *CK7 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
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| *CD10 -ve.
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| **May be positive in [[clear cell RCC]]-like areas.
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| *CK20 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
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| *UEA-1 -ve.<ref name=pmid17895761>{{Cite journal | last1 = Merino | first1 = MJ. | last2 = Torres-Cabala | first2 = C. | last3 = Pinto | first3 = P. | last4 = Linehan | first4 = WM. | title = The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. | journal = Am J Surg Pathol | volume = 31 | issue = 10 | pages = 1578-85 | month = Oct | year = 2007 | doi = 10.1097/PAS.0b013e31804375b8 | PMID = 17895761 }}</ref>
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| **[[Collecting duct carcinoma]] +ve.
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| *TFE3 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
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| *CK34betaE12 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
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| ==See also==
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| *[[Vancouver classification]]
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| ==References==
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| {{Reflist|1}}
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| [[Category:Kidney tumours]]
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| [[Category:Diagnosis]]
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