2026-04-17T03:00:27Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/62432024-06-06T08:42:28Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
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
2021-08-27T08:50:12Z2021-08-27T08:50:12Z2020-11-05
Leiomiomatosi hereditària; Càncer de cèl·lules renals; Gen FHLeiomiomatosis hereditaria; Cáncer de células renales; Gen FHHereditary leiomyomatosis; Renal cell cancer; FH geneHereditary 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.
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
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
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion