Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome"
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* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | * Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]]. | ||
* Uterine [[leiomyosarcoma]]. | * Uterine [[leiomyosarcoma]]. | ||
==Microscopic== | |||
Features:<ref name=pmid24441663/> | |||
*Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - '''important'''. | |||
**May be focal. | |||
*Variable architecture: | |||
**Papillary - classic description. | |||
**Tubulopapillary. | |||
**Tubular. | |||
**Solid. | |||
DDx: | |||
*[[Papillary renal cell carcinoma]]. | |||
*[[Tubulocystic carcinoma of the kidney]]. | |||
*[[Collecting duct carcinoma]]. | |||
==IHC== | ==IHC== | ||
Revision as of 13:51, 25 August 2014
Hereditary leiomyomatosis and renal cell carcinoma, also hereditary leiomyomatosis and renal cell cancer, is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.[1]
It is characterized by:[2]
- Papillary renal cell carcinoma type 2.
- Benign leiomyomas skin/uterus.
- Uterine leiomyosarcoma.
Microscopic
Features:[3]
- Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - important.
- May be focal.
- Variable architecture:
- Papillary - classic description.
- Tubulopapillary.
- Tubular.
- Solid.
DDx:
IHC
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
- ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.
- ↑ 3.0 3.1 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.
- ↑ 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.