title: Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family.
abstract: 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.
authors: Department of Morphology, Institute of Human Genetics, Faculty of Medicine, Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, Bogotá, Colombia. carenasv@unal.edu.co.
authors: Carolina
authors: C
authors: Arenas Valencia
authors: Department of Morphology, Institute of Human Genetics, Faculty of Medicine, Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, Bogotá, Colombia.
authors: Martha Lucia
authors: ML
authors: Rodríguez López
authors: Department of Morphology, Institute of Human Genetics, Faculty of Medicine, Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, Bogotá, Colombia.
authors: Andrea Yimena
authors: AY
authors: Cardona Barreto
authors: Department of Morphology, Institute of Human Genetics, Faculty of Medicine, Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, Bogotá, Colombia.
authors: Edgar
authors: E
authors: Garavito Rodríguez
authors: Department of Morphology, Institute of Human Genetics, Faculty of Medicine, Universidad Nacional de Colombia, 53rd Street # 37-13, Building 426, 1st Floor, Bogotá, Colombia.
authors: Clara Eugenia
authors: CE
authors: Arteaga Díaz
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D003105:Colombia; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D018231:Leiomyomatosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000209:etiology* / Q000235:genetics; D010375:Pedigree; D012878:Skin Neoplasms / Q000209:etiology* / Q000235:genetics; D014594:Uterine Neoplasms / Q000209:etiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D005649:Fumarate Hydratase
keywords: Colombia; FH; Family renal cell cancer; HLRCC; Type 2-papillary renal cell carcinoma