Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family

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• 作者：Carolina Arenas Valencia ; Martha Lucia Rodríguez López…
• 关键词：FH ; HLRCC ; Family renal cell cancer ; Type 2 ; papillary renal cell carcinoma ; Colombia
• 刊名：Familial Cancer
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：16
• 期：1
• 页码：117-122
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Cancer Research; Human Genetics; Epidemiology; Biomedicine, general;
• 出版者：Springer Netherlands
• ISSN：1573-7292
• 卷排序：16

文摘

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. in Clin Genet 79:49–59, 2009). Patients in Colombia or in Latin America have not been described, as far as we know. 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. 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. in Clin Genet 79:49–59, 2009; Schmidt and Linehan in Int J Nephrol Renovasc Dis 7:253–260, 2014]. 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. This investigation constitutes the first report of HLRCC syndrome in Colombia, and probably in Latin America.