Hereditary leiomyomatosis and renal cell carcinoma syndrome
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Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma showing the characteristic hyalinized papillary cores. H&E stain. (WC/Nephron)
Hereditary leiomyomatosis and renal cell carcinoma syndrome (abbreviated HLRCC), also hereditary leiomyomatosis and renal cell cancer, is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.[1][2]
HLRCC is classically described as:[3]
- Papillary renal cell carcinoma type 2.
- Benign leiomyomas skin/uterus.
- Uterine leiomyosarcoma.
General
- Autosomal dominant inheritance[4] with variable penetration.[5]
- In one series of 21 families: 62% renal cancer, 76% had cutaneous leiomyomas and 100% had uterine leiomyomas.[6]
Clinical:
- Leiomyomas seen in many patients.
- Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma.
- Often aggressive and significant cause of mortality.[8]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 150800
- ↑ 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.
- ↑ 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.
- ↑ Cite error: Invalid
<ref>tag; no text was provided for refs namedpmid24309325 - ↑ 6.0 6.1 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.
- ↑ Toon, CW.; Hasovits, C.; Paik, J.; Field, M.; Chou, A.; Hugh, TJ.; Pavlakis, N.; Gill, AJ. (Jul 2014). "Skin rash, a kidney mass and a family mystery dating back to World War II.". Med J Aust 201 (1): 58-60. PMID 24999901.
- ↑ Cite error: Invalid
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