{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T06:20:27Z","timestamp":1767853227780,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T00:00:00Z","timestamp":1415059200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Multiple cutaneous and uterine leiomyomatosis (<jats:styled-content style=\"fixed-case\">MCUL<\/jats:styled-content>) also named as hereditary leiomyomatosis and renal cancer syndrome (<jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content>) is an autosomal dominant disorder caused by heterozygotic germline mutations in fumarate hydratase (<jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content>) with incomplete penetrance and clinically challenging to diagnose. To test immunohistochemistry for <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> as a potential marker for the detection of <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content>\u2010deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>We have tested 42 smooth muscle neoplasms, 13 lesions of patients with suspicious or confirmed <jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content>, 20 sporadic piloleiomyomas, two angioleiomyomas and 7 leiomyosarcomas. <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> staining grades from 1 to 3. Ten of the 13 lesions from the patients with <jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content> syndrome showed negative <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> staining. Most sporadic piloleiomyomas presented grade 3 <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> staining although five cases presented grade 1 <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> staining. Sensitivity of <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> staining in our series is 83.3% but specificity is 75%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This staining could indicate a high risk of <jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content> in most of the confirmed cases but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. <jats:styled-content style=\"fixed-case\">HLRCC<\/jats:styled-content> syndrome should be rule out in <jats:styled-content style=\"fixed-case\">FH<\/jats:styled-content> negative piloleiomyomas after complete anamnesis if multiple lesions or positive familiar history is found.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cup.12396","type":"journal-article","created":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T09:45:10Z","timestamp":1412761510000},"page":"859-865","source":"Crossref","is-referenced-by-count":41,"title":["Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (<scp>MCUL<\/scp>) and hereditary leiomyomatosis and renal cell cancer (<scp>HLRCC<\/scp>) syndrome"],"prefix":"10.1111","volume":"41","author":[{"given":"M.","family":"Llamas\u2010Velasco","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Infanta Cristina  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Requena","sequence":"additional","affiliation":[{"name":"Department of Dermatology Fundaci\u00f3n Jimenez Diaz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kutzner","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Sch\u00e4rer","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"R\u00fctten","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hantschke","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. E.","family":"Paredes","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Mentzel","sequence":"additional","affiliation":[{"name":"Dermatopathologie Friedrichshafen  Friedrichshafen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.2340\/0001555553409416","article-title":"Cutaneous leiomyomata with uterine leiomyomata","volume":"53","author":"Reed WB","year":"1973","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2008.517"},{"key":"e_1_2_5_4_1","first-page":"48","article-title":"Hereditary multiple leiomyoma of the skin","volume":"10","author":"Kloepfer HW","year":"1958","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60574-0"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0183"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-20"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng849"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1173362"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2950"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2932"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19860715)58:2<306::AID-CNCR2820580216>3.0.CO;2-7"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31804375b8"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.2.199"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6600502"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcup.12396","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.12396","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T03:32:55Z","timestamp":1696217575000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.12396"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/cup.12396"],"URL":"https:\/\/doi.org\/10.1111\/cup.12396","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"value":"0303-6987","type":"print"},{"value":"1600-0560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11]]}}}