2026-04-17T12:59:07Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/62432024-06-06T08:42:28Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Sánchez-Heras, A. Beatriz author Castillejo, Adela author García-Díaz, Juan D. author Teulé, Alexandre author Sánchez, Rosario author Lopez Fernandez, Adrià author Balmaña Gelpí, Judith author Robledo, Mercedes author 2021-08-27T08:50:12Z 2021-08-27T08:50:12Z 2020-11-05 Leiomiomatosi hereditària; Càncer de cèl·lules renals; Gen FH Leiomiomatosis hereditaria; Cáncer de células renales; Gen FH Hereditary leiomyomatosis; Renal cell cancer; FH gene Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys. This research received no external funding. Cèl·lules canceroses Ronyons - Malalties - Espanya DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Connective and Soft Tissue::Neoplasms, Muscle Tissue::Leiomyoma::Leiomyomatosis Other subheadings::Other subheadings::Other subheadings::/genetics DISEASES::Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma, Renal Cell GEOGRAPHICALS::Geographic Locations::Europe::Spain ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis Otros calificadores::Otros calificadores::Otros calificadores::/genética ENFERMEDADES::enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales DENOMINACIONES GEOGRÁFICAS::localizaciones geográficas::Europa (continente)::España Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization