{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:02:23Z","timestamp":1756339343103,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,6]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision.<\/jats:p>","DOI":"10.1136\/bcr-2024-261618","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T01:06:24Z","timestamp":1724375184000},"page":"e261618","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cutaneous leiomyosarcoma in a case of hereditary leiomyomatosis and renal cell carcinoma syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Miriam","family":"O'Connor","sequence":"first","affiliation":[{"name":"Dermatology, NHS Greater Glasgow and Clyde, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxine","family":"Paul","sequence":"additional","affiliation":[{"name":"Pathology Department, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant","family":"Wylie","sequence":"additional","affiliation":[{"name":"Dermatology Department, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,8,22]]},"reference":[{"key":"2025082623560724000_17.8.e261618.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01653-9","article-title":"Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review","volume":"16","author":"Chayed","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2025082623560724000_17.8.e261618.2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.2147\/IJNRD.S42097","article-title":"Hereditary leiomyomatosis and renal cell carcinoma","volume":"7","author":"Schmidt","year":"2014","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"2025082623560724000_17.8.e261618.3","first-page":"270","article-title":"Cutaneous leiomyosarcoma - Case report","volume":"7","author":"Ciurea","year":"2014","journal-title":"J Med Life"},{"key":"2025082623560724000_17.8.e261618.4","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1684\/ejd.2015.2681","article-title":"Primary cutaneous and subcutaneous leiomyosarcomas: evolution and prognostic factors","volume":"26","author":"Aneiros-Fernandez","year":"2016","journal-title":"Eur J Dermatol"},{"key":"2025082623560724000_17.8.e261618.5","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.jaad.2017.01.023","article-title":"Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review","volume":"77","author":"Patel","year":"2017","journal-title":"J Am Acad Dermatol"},{"key":"2025082623560724000_17.8.e261618.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.085068"},{"key":"2025082623560724000_17.8.e261618.7","doi-asserted-by":"publisher","DOI":"10.1086\/376435"},{"key":"2025082623560724000_17.8.e261618.8","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.ajog.2018.09.039","article-title":"A US population-based study of uterine fibroid diagnosis incidence, trends, and prevalence: 2005 through 2014","volume":"219","author":"Yu","year":"2018","journal-title":"Am J Obstet Gynecol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:56:15Z","timestamp":1756277775000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":8,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8,22]]},"published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1136\/bcr-2024-261618"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261618","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,8]]}}}