Hereditary leiomyomatosis and renal cell carcinoma syndrome
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Hereditary leiomyomatosis and renal cell carcinoma (abbreviated HLRCC), also hereditary leiomyomatosis and renal cell cancer, is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.[1]
HLRCC is classically described as:[2]
- Papillary renal cell carcinoma type 2.
- Benign leiomyomas skin/uterus.
- Uterine leiomyosarcoma.
General
Clinical:
- Leiomyomas seen in almost all patients.
- The associated renal cell carcinoma is often aggressive and significant cause of mortality.[5]
Microscopic
Features - renal cell carcinoma:[5]
- Large eosinophilic nucleolus with perinucleolar clearing - proposed hallmark - important.
- May be focal.
- Variable architecture:
- Papillary - classic description.
- Hyaline material within the fibrovascular cores.
- Tubulopapillary.
- Tubular.
- Solid.
- Sieve-like pattern/cribriform.
- Papillary - classic description.
DDx:
- Papillary renal cell carcinoma (type 2).
- Tubulocystic carcinoma of the kidney.
- Collecting duct carcinoma.
- Renal medullary carcinoma - cells also have a prominent nucleolus.
IHC
Others:
- CK7 -ve (0 +ve/38 cases[3]).
- CD10 -ve.
- May be positive in clear cell RCC-like areas.
- CK20 -ve (0 +ve/38 cases[3]).
- UEA-1 -ve.[3]
- +ve in collecting duct carcinoma.
- TFE3 -ve (0 +ve/38 cases[3]).
- CK34betaE12 -ve (0 +ve/38 cases[3]).
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 3.2 3.3 3.4 3.5 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.
- ↑ 4.0 4.1 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 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.