hereditary leiomyomatosis and renal cell cancer syndrome
MIM.605839
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cell carcinoma. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.
Synopsis
renal cell carcinoma (#17895761#)
- mostly unilateral
- size of the tumors between 2.3 and 20 cm
- no laterality preference
- architectural patterns
- papillary
- tubulo-papillary
- tubular
- solid
- mixed patterns
- characteristic large nucleus with a very prominent inclusion like orangiophilic or eosinophilic nucleolus, surrounded by a clear halo
- loss of heterozygosity: 1q32 LOH and 1q42-44 LOH
- poor prognosis
- frequent spread to regional lymph nodes
uterine leiomyomas (#21753700#)
Etiology
mutations in the fumarate hydratase gene (FH) (MIM.136850) cause hereditary leiomyomatosis and renal cell cancer in families in North America (#12772087#)
References
Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report. Garg K, Tickoo SK, Soslow RA, Reuter VE. Am J Surg Pathol. 2011 Aug;35(8):1235-7. PMID: #21753700#
Merino MJ, Torres-Cabala C, Pinto P, Marston Linehan W. The Morphologic Spectrum of Kidney Tumors in Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome. Am J Surg Pathol. 2007 Oct;31(10):1578-1585. PMID: #17895761#
Reviews
Kiuru M, Launonen V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med. 2004 Dec;4(8):869-75. PMID: #15579034#