{"id":27107,"date":"2024-05-26T12:38:34","date_gmt":"2024-05-26T10:38:34","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27107"},"modified":"2025-08-26T11:15:20","modified_gmt":"2025-08-26T09:15:20","slug":"hereditary-leiomyomatosis-and-renal-cell-carcinoma","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/hereditary-leiomyomatosis-and-renal-cell-carcinoma\/","title":{"rendered":"Hereditary Leiomyomatosis and Renal Cell Carcinoma"},"content":{"rendered":"

Hereditary Leiomyomatosis and Renal Cell Carcinoma \u2013\u00a0Definition<\/h2><\/div>
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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC, OMIM #150800) is a genetic disease caused by pathogenic variants in the FH<\/em> gene. It is characterized by the occurrence of cutaneous leiomyomas, uterine leiomyomas (fibroids), and\/or solitary renal tumors.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

HLRCC<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

FH<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

FH (Fumarat Hydratase)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Tumor suppressor
\nInactivation of fumarate hydratase leads to an intracellular accumulation of fumarate and, thereby, a reduced degradation of HIF (hypoxia-induced factor). The resulting increase in HIF-1\u03b1 activity increases the expression of growth factors.<\/p>\n<\/div><\/div><\/div><\/div>

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Patterns of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

More than 300 families with HLRCC have been described to date.<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

High, but incomplete<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>