2026-04-17T03:33:20Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1738632026-04-10T22:47:49Zcom_2072_1057col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Sánchez Heras, Ana Beatriz author Castillejo, Adela author García Díaz, Juan de Dios author Robledo, Mercedes author Teulé-Vega, Àlex author Sánchez, Rosario author Zúñiga, Ángel author Lastra, Enrique author Durán, Mercedes author Llort, Gemma author Yagüe, Carmen author Ramón y Cajal, Teresa author López San Martín, Consol author López Fernández, Adrià author Balmaña, Judith author Robles, Luis author Mesa Latorre, José M. author Chirivella González, Isabel author Fonfria, María author Perea Ibañez, Raquel author Castillejo, M. Isabel author Escandell, Inés author Gomez, Luis author Berbel, Pere author Soto, José Luis author 2021-02-12T09:26:59Z 2021-02-12T09:26:59Z 2020-11-01 2021-02-08T10:17:19Z Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants. The frequency of RCCs (10.9%) was lower than those reported in the previously published series. 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. Malalties rares Malalties hereditàries Cèl·lules canceroses Malalties del ronyó Rare diseases Genetic disorders Cancer cells Kidney diseases Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization