Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Worsley C, Morgan M, et al. Hereditary leiomyomatosis and renal cell carcinoma. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-21450
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), also known as Reed syndrome, is an autosomal dominant tumor susceptibility syndrome.
Pathology
It is characterized by 2:
Genetics
Mutations in the gene fumarate hydratase have been identified as the responsible underlying mechanism 3,4.
See also
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1. Reed W, Walker R, Horowitz R. Cutaneous Leiomyomata with Uterine Leiomyomata. Acta Derm Venereol. 1973;53(5):409-16. - Pubmed
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2. Kiuru M & Launonen V. Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). Curr Mol Med. 2004;4(8):869-75. doi:10.2174/1566524043359638 - Pubmed
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3. Toro J, Nickerson M, Wei M et al. Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America. Am J Hum Genet. 2003;73(1):95-106. doi:10.1086/376435 - Pubmed
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4. Alam N, Olpin S, Leigh I. Fumarate Hydratase Mutations and Predisposition to Cutaneous Leiomyomas, Uterine Leiomyomas and Renal Cancer. Br J Dermatol. 2005;153(1):11-7. doi:10.1111/j.1365-2133.2005.06678.x - Pubmed
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5. Raghavan A, Gibson I, Wightman R, Czaykowski P, Graham J. Redefining Renal Cell Carcinoma: A Molecular Perspective on Classification and Clinical Implications. EMJ. 2023;8(4):116-23. doi:10.33590/emj/10301071
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