{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:50:53Z","timestamp":1756461053705,"version":"3.41.2"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T00:00:00Z","timestamp":1715212800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats: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.<\/jats:p>","DOI":"10.3389\/fmed.2024.1391978","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T05:15:06Z","timestamp":1715231706000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Uterine leiomyoma with fumarate hydratase deficiency"],"prefix":"10.3389","volume":"11","author":[{"given":"Diana","family":"Bu\u017einskien\u0117","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominyka","family":"Grinci\u016bt\u0117","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mindaugas","family":"\u0160ilk\u016bnas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"\u0160idlovska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"article-title":"Hereditary Leiomyomatosis and renal cell Cancer (PDQ\u00ae): health professional version","volume-title":"PDQ Cancer information summaries","year":"2002","key":"ref2"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1136\/jclinpath-2021-207830","article-title":"Gene of the month: FH","volume":"74","author":"Zyla","year":"2021","journal-title":"J Clin Pathol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.semcdb.2019.05.002","article-title":"Fumarate hydratase in cancer: a multifaceted tumour suppressor","volume":"98","author":"Schmidt","year":"2020","journal-title":"Semin Cell Dev Biol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.tibs.2015.12.001","article-title":"The Warburg effect: how does it benefit Cancer cells?","volume":"41","author":"Liberti","year":"2016","journal-title":"Trends Biochem Sci"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"e100","DOI":"10.1097\/AOG.0000000000004401","article-title":"ACOG practice bulletin, number 228","volume":"137","year":"2021","journal-title":"Obstet Gynecol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1080\/08941939.2020.1836289","article-title":"Is uterine myomectomy a real contraindication to vaginal delivery? 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