{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T05:15:18Z","timestamp":1734498918527,"version":"3.30.2"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T00:00:00Z","timestamp":1488844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary leiomyomatosis and renal cell cancer (<jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content>) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe the case of a 53\u2010year\u2010old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (<jats:italic><jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content><\/jats:italic>) gene <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content> 9\u20131 G&gt;C (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_000143.3\">NM_000143.3<\/jats:ext-link>:c 1391\u20131 G&gt;C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of <jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content> in the absence of a family or personal history of cancer and despite initial genetic testing being negative.<\/jats:p>","DOI":"10.1111\/ajd.12605","type":"journal-article","created":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T11:12:56Z","timestamp":1488885176000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with <scp>HLRCC<\/scp>"],"prefix":"10.1111","volume":"58","author":[{"given":"Rachel Yi Ping","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maie","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Howard","sequence":"additional","affiliation":[{"name":"Department of Dermatology Western Health Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Winship","sequence":"additional","affiliation":[{"name":"Department of Medicine Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng849"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/376435"},{"key":"e_1_2_6_4_1","unstructured":"EviQ Guidelines.Risk management for hereditary leiomyoma renal cell carcinoma (FH gene). Available from URL:https:\/\/www.eviq.org.au\/Protocol\/tabid\/66\/categoryid\/66\/id\/1657\/Risk+Management+for+Hereditary+Leiomyoma+Renal+Cell+Carcinoma+(FH+gene).aspx#ReferencesList. (Accessed 14 April 2016.)"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033506"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.2.199"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg148"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/0001555553409416"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.051633798"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01486.x"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fajd.12605","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.12605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T04:44:48Z","timestamp":1734410688000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.12605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,7]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/ajd.12605"],"URL":"https:\/\/doi.org\/10.1111\/ajd.12605","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"type":"print","value":"0004-8380"},{"type":"electronic","value":"1440-0960"}],"subject":[],"published":{"date-parts":[[2017,3,7]]},"assertion":[{"value":"2016-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-10-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-03-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}