Linehan WM, Rouault TA (2013) Molecular pathways: fumarate hydratase-deficient kidney cancer-targeting the Warburg effect in Cancer. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D et al (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Am J Hum Genet 73:95–106ĭe Velasco G, Muñoz C, Sepúlveda JM, Castellano D (2015) Sequential treatments in hereditary leiomyomatosis and renal cell carcinoma (HLRCC): case report and review of the literature. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML et al (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Schmidt LS, Linehan WM (2014) Hereditary leiomyomatosis and renal cell carcinoma. Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon MEH, van Spaendonck KY et al (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
This investigation constitutes the first report of HLRCC syndrome in Colombia, and probably in Latin America. We report a Colombian family with HLRCC syndrome, with a novel mutation in FH gene (c.1349_1352delATGA) in which cutaneous leiomyomas have not been found, but other clinical manifestations such as type 2- papillary renal cell carcinoma, uterine leiomyomas and rare tumors were present. in Clin Genet 79:49–59, 2009 Schmidt and Linehan in Int J Nephrol Renovasc Dis 7:253–260, 2014]. It is characterized mainly by the appearance of cutaneous and uterine leiomyomas, and an early-onset, aggressive form of type 2- papillary renal cell carcinoma (Smit et al. HLRCC is inherited in an autosomal dominant manner, and it is caused by heterozygous germline mutations in the FH gene, which encodes the fumarate hydratase enzyme. Patients in Colombia or in Latin America have not been described, as far as we know.
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC) is a rare disease and since the first report, it has been found in just over 200 families approximately, around the world (Smit et al.
0 kommentar(er)
