Search results for "Leiomyomas"
showing 4 items of 4 documents
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
2020
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 varia…
Ulipristal acetate versus leuprolide acetate for uterine fibroids
2012
A b s t r ac t Background The efficacy and side-effect profile of ulipristal acetate as compared with those of leuprolide acetate for the treatment of symptomatic uterine fibroids before surgery are unclear. Methods In this double-blind noninferiority trial, we randomly assigned 307 patients with symptomatic fibroids and excessive uterine bleeding to receive 3 months of daily therapy with oral ulipristal acetate (at a dose of either 5 mg or 10 mg) or once-monthly intramuscular injections of leuprolide acetate (at a dose of 3.75 mg). The primary outcome was the proportion of patients with controlled bleeding at week 13, with a prespecified noninferiority margin of −20%. Results Uterine bleed…
Overexpression of the truncated form of high mobility group a proteins (HMGA2) in human myometrial cells induces leiomyoma-like tissue formation
2014
The pathogenesis of uterine leiomyomas, the most common benign tumor in women, is still unknown. This lack of basic knowledge limits the development of novel non-invasive therapies. Our group has previously demonstrated that leiomyoma side population (SP) cells are present in tumor lesions and act like putative tumor-initiating stemcells in human leiomyoma. Moreover, accumulated evidence demonstrates that these benign tumors of mesenchymal origin are characterized by rearrangements of the High Mobility Group A proteins (HMGA). In this work, we tested the hypothesis that leiomyoma development may be due to overexpression of HMGA2 (encoding high mobility group AT-hook2) in myometrial stem cel…
Characterization of the epigenetic modifications in human uterine leiomyomas and evaluation of their potential as therapeutic targets in vitro
2023
Los miomas o fibromas uterinos (UL) son los tumores benignos más frecuentes en las mujeres en edad reproductiva. A pesar de su elevada prevalencia y de las diferentes opciones de tratamiento, no existe terapia eficaz para la reducción del tamaño de los UL que sea mínimamente invasiva y sin efectos secundarios a largo plazo. Su patología tumoral permanece desconocida, lo que dificulta el desarrollo de tratamientos seguros y eficaces. Por lo tanto, la identificación de los mecanismos moleculares implicados en la generación de UL podría permitir el desarrollo de tratamientos más eficaces. Las modificaciones epigenéticas están implicadas en el desarrollo de los tumores y pueden revertirse media…