AUTHOR=Bužinskienė Diana , Grinciūtė Dominyka , Šilkūnas Mindaugas , Šidlovska Evelina 

TITLE=Case report: Uterine leiomyoma with fumarate hydratase deficiency

JOURNAL=Frontiers in Medicine

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1391978

DOI=10.3389/fmed.2024.1391978

ISSN=2296-858X

ABSTRACT=<p>Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis.</p>