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Line 12: |
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| Clinical: | | Clinical: |
| *Leiomyomas seen in many patients. | | *[[Leiomyoma]]s seen in many patients. |
| **Manifestation: skin rash.<ref name=pmid24999901>{{Cite journal | last1 = Toon | first1 = CW. | last2 = Hasovits | first2 = C. | last3 = Paik | first3 = J. | last4 = Field | first4 = M. | last5 = Chou | first5 = A. | last6 = Hugh | first6 = TJ. | last7 = Pavlakis | first7 = N. | last8 = Gill | first8 = AJ. | title = Skin rash, a kidney mass and a family mystery dating back to World War II. | journal = Med J Aust | volume = 201 | issue = 1 | pages = 58-60 | month = Jul | year = 2014 | doi = | PMID = 24999901 }}</ref> | | **Manifestation: skin rash.<ref name=pmid24999901>{{Cite journal | last1 = Toon | first1 = CW. | last2 = Hasovits | first2 = C. | last3 = Paik | first3 = J. | last4 = Field | first4 = M. | last5 = Chou | first5 = A. | last6 = Hugh | first6 = TJ. | last7 = Pavlakis | first7 = N. | last8 = Gill | first8 = AJ. | title = Skin rash, a kidney mass and a family mystery dating back to World War II. | journal = Med J Aust | volume = 201 | issue = 1 | pages = 58-60 | month = Jul | year = 2014 | doi = | PMID = 24999901 }}</ref> |
| **Involvement may be minimal or extensive.<ref name=pmid16597677/> | | **Involvement may be minimal or extensive.<ref name=pmid16597677/> |
| *The associated [[renal cell carcinoma]] is often aggressive and significant cause of mortality.<ref name=pmid24441663/>
| | *[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. |
| | | **Often aggressive and significant cause of mortality.<ref name=pmid24441663/> |
| ==Microscopic==
| |
| Features - renal cell carcinoma:<ref name=pmid24441663/>
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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]].
| |
| | |
| 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>
| |
| | |
| DDx:
| |
| *[[Papillary renal cell carcinoma]] (type 2).
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| *[[Tubulocystic carcinoma of the kidney]]. | |
| *[[Collecting duct carcinoma]].<ref name=pmid16597677/>
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| *[[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)
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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)
| |
| </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.
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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.
| |
| </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.
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| **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/>).
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| ==See also== | | ==See also== |