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01.06.2011

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

Erschienen in: Familial Cancer | Ausgabe 2/2011

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Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC, also known as multiple cutaneous and uterine leiomyomatosis, MCUL) is a highly penetrant autosomal dominant tumor predisposition syndrome characterized by benign leiomyomas of the skin and the uterus. Renal cell carcinomas, occurring in a subset of the HLRCC families, are exceptionally aggressive. Therefore careful, frequent surveillance strategies are recommended. Association of malignant smooth-muscle tumors, leiomyosarcomas, with HLRCC has been observed but the risk appears to be smaller than initially estimated. To date inactivating heterozygous mutations in the fumarate hydratase (FH, fumarase) gene, predisposing to HLRCC, have been found in approximately 180 families worldwide. The most extensively studied hypothesis on molecular mechanisms of HLRCC tumorigenesis is activation of the hypoxia pathway due to aberrant stabilization of the HIF1 transcription factor. HIF1 regulates transcription of genes relevant for vascularization, glucose transport and glycolysis, processes that facilitate tumor growth. However, additional mechanisms underlying tumor formation are likely to exist.

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Titel: Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics
Publikationsdatum: 01.06.2011
Erschienen in: Familial Cancer / Ausgabe 2/2011
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9428-z

Springer Medizin

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

Abstract

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