Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma"

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{{ Infobox diagnosis
#redirect [[Fumarate hydratase-deficient renal cell carcinoma]]
| Name      = {{PAGENAME}}
| Image      = Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg
| Width      =
| Caption    = [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]] showing the characteristic hyalinized papillary cores. [[H&E stain]]. (WC/Nephron)
| Synonyms  =
| 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  =
| LMDDx      = [[papillary renal cell carcinoma]] (type 2), [[tubulocystic carcinoma of the kidney]], [[collecting duct carcinoma]], [[renal medullary carcinoma]]
| Stains    =
| IHC        = FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve
| EM        =
| Molecular  = FH mutation
| IF        =
| Gross      =
| Grossing  = [[total nephrectomy for tumour grossing]], [[partial nephrectomy grossing]]
| Staging    = [[kidney cancer staging]]
| Site      = [[kidney]] - see ''[[kidney tumours]]''
| Assdx      = [[uterine leiomyoma]]s (women), skin [[leiomyoma]]s
| Syndromes  = [[hereditary leiomyomatosis and renal cell carcinoma syndrome]]
| Clinicalhx = +/-family history of kidney cancer, +/-family history of leiomyomas
| Signs      = +/-"skin rash" (leiomyomas), signs of renal cancer (+/-hematuria, +/-palpable abdominal mass)
| Symptoms  =
| Prevalence = rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = poor
| Other      =
| ClinDDx    = other [[kidney tumours]]
| 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]].
 
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>
 
'''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==
*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]]''.
 
==Microscopic==
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>
*Cells with:
**Large, (usually) eosinophilic, nucleolus with perinucleolar clearing - proposed hallmark - '''important'''.
***May be focal.
**Abundant or moderate (eosinophilic/partially clear) cytoplasm.
*Variable architecture:
**Papillary - classic description.
***Hyaline material within the fibrovascular cores - '''characteristic'''.
**Tubulopapillary.
**Tubular.
**Solid.
**[[Sieve-like pattern]]/[[cribriform]].
 
Notes:
*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>
 
DDx:
*[[Papillary renal cell carcinoma]] (type 2).
*[[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>
*[[Renal medullary carcinoma]] - cells also have a [[prominent nucleoli|prominent nucleolus]].
 
===Images===
====RCC====
<gallery>
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- low mag.jpg | HLRCC - low mag. (WC)
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- intermed mag.jpg | HLRCC - intermed mag. (WC)
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg | HLRCC - high mag. (WC)
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - alt -- high mag.jpg | HLRCC - high mag. (WC)
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- very high mag.jpg | HLRCC - very high mag. (WC)
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - alt -- very high mag.jpg | HLRCC - very high mag. (WC)
</gallery>
<gallery>
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- low mag.jpg | HLRCC - [[tubulocystic carcinoma of the kidney|TC-like]] - low mag.
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- intermed mag.jpg | HLRCC - TC-like - intermed mag.
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- high mag.jpg | HLRCC - TC-like - high mag.
Image: Hereditary leiomyomatosis and renal cell carcinoma associated RCC - TC-like -- very high mag.jpg | HLRCC - TC-like - very high mag.
</gallery>
 
====www====
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC30663/figure/F3/ RCC in HLRCC (nih.gov)].<ref name=pmid11248088/>
 
==IHC==
*Fumarate hydratase (FH) -ve.
*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>
**2SC = S-(2-succino)-cysteine.
 
Others:
*CK7 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
*CD10 -ve.
**May be positive in [[clear cell RCC]]-like areas.
*CK20 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
*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>
**[[Collecting duct carcinoma]] +ve.
*TFE3 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
*CK34betaE12 -ve (0 +ve/38 cases<ref name=pmid17895761/>).
 
==See also==
*[[Vancouver classification]]
 
==References==
{{Reflist|1}}
 
[[Category:Kidney tumours]]
[[Category:Diagnosis]]

Latest revision as of 18:38, 24 March 2024

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