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
Etiology
mutations in the fumarate hydratase gene (FH) (MIM.136850) cause hereditary leiomyomatosis and renal cell cancer in families in North America (12772087)
References
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