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

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#redirect [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg
| Width      =
| Caption    = FH-deficient 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]], [[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
}}
'''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''').<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==
*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]].
*[[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|2}}
 
[[Category:Kidney tumours]]
[[Category:Diagnosis]]

Latest revision as of 18:35, 24 March 2024

Fumarate hydratase-deficient renal cell carcinoma
Diagnosis in short

FH-deficient 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, 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

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).[1][2]

General

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.
  • Variable architecture:
    • Papillary - classic description.
      • Hyaline material within the fibrovascular cores - characteristic.
    • Tubulopapillary.
    • Tubular.
    • Solid.
    • Sieve-like pattern/cribriform.

Notes:

DDx:

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:

See also

References

  1. ↑ 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.
  2. ↑ 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. ↑ 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. ↑ 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.
  5. ↑ 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.
  6. ↑ 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. ↑ 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.
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