Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma"
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*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC30663/figure/F3/ RCC in HLRCC (nih.gov)].<ref name=pmid11248088/> | *[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== | ==See also== | ||
Revision as of 03:38, 16 March 2016
| Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated 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 | 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 |
| LM DDx | papillary renal cell carcinoma (type 2), tubulocystic carcinoma of the kidney, collecting duct carcinoma, renal medullary carcinoma |
| IHC | FH -ve, 2SC +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 |
|
| |
| Signs | +/-skin rash |
| Prevalence | rare |
| Prognosis | poor |
| Clin. DDx | other kidney tumours |
| Treatment | resection |
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.
General
- Often aggressive - significant cause of mortality.[1]
Microscopic
Features - renal cell carcinoma:[1]
- Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - important.
- May be focal.
- 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.[2]
DDx:
- Papillary renal cell carcinoma (type 2).
- Tubulocystic carcinoma of the kidney.
- Collecting duct carcinoma.[3]
- 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,[4] cytoplasmic and nuclear.[1]
- 2SC = S-(2-succino)-cysteine.
Others:
- CK7 -ve (0 +ve/38 cases[5]).
- CD10 -ve.
- May be positive in clear cell RCC-like areas.
- CK20 -ve (0 +ve/38 cases[5]).
- UEA-1 -ve.[5]
- TFE3 -ve (0 +ve/38 cases[5]).
- CK34betaE12 -ve (0 +ve/38 cases[5]).
See also
References
- ↑ 1.0 1.1 1.2 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.
- ↑ 2.0 2.1 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.
- ↑ 5.0 5.1 5.2 5.3 5.4 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.