{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T12:12:28Z","timestamp":1792239148619,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T00:00:00Z","timestamp":1493683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Laboratoire de G\u00e9n\u00e9tique Oncologique EPHE"},{"name":"CHU Bic\u00eatre"},{"name":"CHU Grenoble"},{"name":"CH Montfermeil"},{"name":"Plateforme de Ressources Biologiques","award":["BB-0033-00021"],"award-info":[{"award-number":["BB-0033-00021"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"\n \n \n We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma (\n HLRCC<\/jats:styled-content>\n ) by exploring all French cases, representing the largest series to date. Fumarate hydratase\n \n (\n FH<\/jats:styled-content>\n )\n <\/jats:italic>\n germline testing was performed with Sanger sequencing and\n qPCR<\/jats:styled-content>\n \/\n MLPA<\/jats:styled-content>\n . Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of\n RCC<\/jats:styled-content>\n and S\u2010(2\u2010succino)\u2010cysteine (\n 2SC<\/jats:styled-content>\n )\/fumarate hydratase immunohistochemistry. We estimated survival using non\u2010parametric Kaplan\u2010Meier. There were 182 cases from 114 families. Thirty\u2010seven\n RCC<\/jats:styled-content>\n were diagnosed in 34 carriers (19%) at a median age of 40. Among the 23\n RCC<\/jats:styled-content>\n with pathology review, 13 were papillary type 2. There were 4 papillary\n RCC<\/jats:styled-content>\n of unspecified type, 3 unclassified, 2 tubulocystic, and 1 collecting duct (\n CD<\/jats:styled-content>\n )\n RCC<\/jats:styled-content>\n , all\n 2SC<\/jats:styled-content>\n + and most (8\/10)\n FH<\/jats:styled-content>\n \u2212. Of the remaining 14, papillary type 2, papillary unspecified,\n CD<\/jats:styled-content>\n , and clear cell histologies were reported. The vast majority of\n RCC<\/jats:styled-content>\n (82%) were metastatic at diagnosis or rapidly became metastatic. Median survival for metastatic disease was 18\u2009months (95%\n CI<\/jats:styled-content>\n : 11\u201029). 133 cases (73%) had a history of cutaneous leiomyomas, 3 developed skin leiomyosarcoma. Uterine leiomyomas were frequent in women (77%), but no sarcomas were observed. Only 2 cases had pheochromocytomas\/paraganglioma.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Our findings have direct implications regarding the identification and management of\n HLRCC<\/jats:styled-content>\n patients.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cge.13014","type":"journal-article","created":{"date-parts":[[2017,3,16]],"date-time":"2017-03-16T13:48:54Z","timestamp":1489672134000},"page":"606-615","source":"Crossref","is-referenced-by-count":134,"title":["Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French\n \n FH<\/scp>\n <\/i>\n mutation carriers"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6412-932X","authenticated-orcid":false,"given":"M.","family":"Muller","sequence":"first","affiliation":[{"name":"R\u00e9seau Expert National pour Cancers Rares de l'Adulte PREDIR AP\u2010HP\/INCa H\u00f4pital Bic\u00eatre Le Kremlin\u2010Bic\u00eatre 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