Difference between revisions of "Fumarate hydratase-deficient renal cell carcinoma"
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{{ Infobox diagnosis | |||
| 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]] | |||
Revision as of 18:25, 24 March 2024
| Fumarate hydratase-deficient renal cell carcinoma | |
|---|---|
| Diagnosis in short | |
 Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma showing the characteristic hyalinized papillary cores. H&E stain. (WC/Nephron) | |
|
| |
| LM | 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 |
| LM DDx | papillary renal cell carcinoma (type 2), tubulocystic carcinoma of the kidney, collecting duct carcinoma, renal medullary carcinoma |
| IHC | FH -ve, 2SC +ve, CK7 -ve, TFE3 -ve, CK20 -ve, CD10 -ve, UEA-1 -ve |
| Molecular | FH mutation |
| Grossing notes | total nephrectomy for tumour grossing, partial nephrectomy grossing |
| Staging | kidney cancer staging |
| Site | kidney - see kidney tumours |
|
| |
| Associated Dx | uterine leiomyomas (women), skin leiomyomas |
| Syndromes | hereditary leiomyomatosis and renal cell carcinoma syndrome |
|
| |
| Clinical history | +/-family history of kidney cancer, +/-family history of leiomyomas |
| Signs | +/-"skin rash" (leiomyomas), signs of renal cancer (+/-hematuria, +/-palpable abdominal mass) |
| Prevalence | rare |
| Prognosis | poor |
| Clin. DDx | other kidney tumours |
| Treatment | resection |
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma (abbreviated HLRCC syndrome-associated RCC) is a 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.[1]
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.[2]
General
- Often aggressive - significant cause of mortality.[3]
- See hereditary leiomyomatosis and renal cell carcinoma syndrome.
Microscopic
Features - renal cell carcinoma:[3]
- Cells with:
- Large, (usually) eosinophilic, nucleolus with perinucleolar clearing - proposed hallmark - important.
- May be focal.
- Abundant or moderate (eosinophilic/partially clear) cytoplasm.
- Large, (usually) eosinophilic, nucleolus with perinucleolar clearing - proposed hallmark - important.
- Variable architecture:
- Papillary - classic description.
- Hyaline material within the fibrovascular cores - characteristic.
- Tubulopapillary.
- Tubular.
- Solid.
- Sieve-like pattern/cribriform.
- Papillary - classic description.
Notes:
- Not common: psammoma bodies, foamy macrophages.[4]
DDx:
- Papillary renal cell carcinoma (type 2).
- Tubulocystic carcinoma of the kidney.
- Collecting duct carcinoma.[5]
- Renal medullary carcinoma - cells also have a prominent nucleolus.
Images
RCC
HLRCC - low mag. (WC)
HLRCC - intermed mag. (WC)
HLRCC - high mag. (WC)
HLRCC - high mag. (WC)
HLRCC - very high mag. (WC)
HLRCC - very high mag. (WC)
HLRCC - TC-like - low mag.
HLRCC - TC-like - intermed mag.
HLRCC - TC-like - high mag.
HLRCC - TC-like - very high mag.
www
IHC
- Fumarate hydratase (FH) -ve.
- 2SC +ve -- cytoplasmic,[6] cytoplasmic and nuclear.[3]
- 2SC = S-(2-succino)-cysteine.
Others:
- CK7 -ve (0 +ve/38 cases[7]).
- CD10 -ve.
- May be positive in clear cell RCC-like areas.
- CK20 -ve (0 +ve/38 cases[7]).
- UEA-1 -ve.[7]
- TFE3 -ve (0 +ve/38 cases[7]).
- CK34betaE12 -ve (0 +ve/38 cases[7]).
See also
References
- ↑ Srigley, JR.; Delahunt, B.; Eble, JN.; Egevad, L.; Epstein, JI.; Grignon, D.; Hes, O.; Moch, H. et al. (Oct 2013). "The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia.". Am J Surg Pathol 37 (10): 1469-89. doi:10.1097/PAS.0b013e318299f2d1. PMID 24025519.
- ↑ Trpkov, K.; Hes, O.; Agaimy, A.; Bonert, M.; Martinek, P.; Magi-Galluzzi, C.; Kristiansen, G.; Lüders, C. et al. (Feb 2016). "Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.". Am J Surg Pathol. doi:10.1097/PAS.0000000000000617. PMID 26900816.
- ↑ 3.0 3.1 3.2 Chen, YB.; Brannon, AR.; Toubaji, A.; Dudas, ME.; Won, HH.; Al-Ahmadie, HA.; Fine, SW.; Gopalan, A. et al. (May 2014). "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.". Am J Surg Pathol 38 (5): 627-37. doi:10.1097/PAS.0000000000000163. PMID 24441663.
- ↑ 4.0 4.1 Launonen, V.; Vierimaa, O.; Kiuru, M.; Isola, J.; Roth, S.; Pukkala, E.; Sistonen, P.; Herva, R. et al. (Mar 2001). "Inherited susceptibility to uterine leiomyomas and renal cell cancer.". Proc Natl Acad Sci U S A 98 (6): 3387-92. doi:10.1073/pnas.051633798. PMID 11248088.
- ↑ Pithukpakorn, M.; Wei, MH.; Toure, O.; Steinbach, PJ.; Glenn, GM.; Zbar, B.; Linehan, WM.; Toro, JR. (Sep 2006). "Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.". J Med Genet 43 (9): 755-62. doi:10.1136/jmg.2006.041087. PMID 16597677.
- ↑ Reyes, C.; Karamurzin, Y.; Frizzell, N.; Garg, K.; Nonaka, D.; Chen, YB.; Soslow, RA. (Jul 2014). "Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.". Mod Pathol 27 (7): 1020-7. doi:10.1038/modpathol.2013.215. PMID 24309325.
- ↑ 7.0 7.1 7.2 7.3 7.4 Merino, MJ.; Torres-Cabala, C.; Pinto, P.; Linehan, WM. (Oct 2007). "The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.". Am J Surg Pathol 31 (10): 1578-85. doi:10.1097/PAS.0b013e31804375b8. PMID 17895761.