Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma"
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{{ Infobox diagnosis | {{ Infobox diagnosis | ||
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| Image = | | Image = Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg | ||
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| Caption = | | Caption = [[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]] showing the characteristic hyalinized papillary cores. [[H&E stain]]. (WC/Nephron) | ||
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| Molecular = | | Molecular = FH mutation | ||
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Revision as of 03:32, 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) | |
| Molecular | FH mutation |
| Grossing notes | total nephrectomy for tumour grossing, partial nephrectomy grossing |
| Staging | kidney cancer staging |
| Site | kidney - see kidney tumours |
|
| |
| 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
See also
References
- ↑ 1.0 1.1 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.