{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:55:00Z","timestamp":1792799700395,"version":"4.5.0"},"reference-count":23,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Terry Fox Foundation Marathon of Hope Cancer Centers Network","award":["3613-01, 3613-02"],"award-info":[{"award-number":["3613-01, 3613-02"]}],"id":[{"id":"https:\/\/ror.org\/05vd00053","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Fonds de recherche du Qu\u00e9bec\u2013Sant\u00e9 (FRQS) Master\u2019s Award","award":["https:\/\/doi.org\/10.69777\/347943"],"award-info":[{"award-number":["https:\/\/doi.org\/10.69777\/347943"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Int J Surg Pathol"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>\n                    Birt-Hogg-Dub\u00e9 syndrome and Smith-Magenis syndrome both involve the 17p11.2 chromosomal region, with\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    germline pathogenic variants causing Birt-Hogg-Dub\u00e9 syndrome and\n                    <jats:italic toggle=\"yes\">RAI1<\/jats:italic>\n                    deletions causing Smith-Magenis syndrome. When Smith-Magenis syndrome deletions extend to include\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    , Birt-Hogg-Dub\u00e9 syndrome-related manifestations may develop; however, such occurrences remain anecdotal, particularly with respect to renal tumors. We describe a 35-year-old man with Smith-Magenis syndrome who developed two right renal tumors, including one confirmed\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    -mutated tumor. Histology revealed a mosaic admixture of oncocytic and chromophobe-like cells with patchy keratin 7 and KIT expression. Molecular analysis identified a germline 17p11.2 deletion encompassing\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">RAI1<\/jats:italic>\n                    , together with a somatic\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    splice-donor mutation (c.1300+1G&gt;A), consistent with biallelic\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    inactivation. These findings support a shared pathogenic mechanism between Smith-Magenis syndrome and Birt-Hogg-Dub\u00e9 syndrome, contributing to the existing literature on\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    -associated renal neoplasia. Recognition of this overlap is important for clinical awareness and further supports renal surveillance in Smith-Magenis syndrome patients.\n                  <\/jats:p>","DOI":"10.1177\/10668969251415520","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T09:33:02Z","timestamp":1773394382000},"page":"1303-1309","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>FLCN<\/i>\n                    -Mutated Tumors in Smith-Magenis Syndrome: A Case Report of\n                    <i>FLCN<\/i>\n                    -Associated Pathogenesis"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8023-6560","authenticated-orcid":false,"given":"\u00c9milie","family":"Pichette","sequence":"first","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6576-0097","authenticated-orcid":false,"given":"Ali","family":"Shahini","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2816-8222","authenticated-orcid":false,"given":"Senthilkumar","family":"Kailasam","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-304X","authenticated-orcid":false,"given":"Simon","family":"Tanguay","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-4651","authenticated-orcid":false,"given":"William D.","family":"Foulkes","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0875-618X","authenticated-orcid":false,"given":"Yasser","family":"Riazalhosseini","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7589-0453","authenticated-orcid":false,"given":"Fadi","family":"Brimo","sequence":"additional","affiliation":[{"name":"McGill University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1535-6108(02)00104-6"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202009"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63049"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2025.105813"},{"key":"e_1_3_2_6_2","volume-title":"WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]","author":"Hartmann A","year":"2022","unstructured":"Hartmann A, Gill AJ, He H, et al. Chromophobe renal cell carcinoma. In: WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]. International Agency for Research on Cancer; 2022. [cited 2025 Sep 7]. (WHO classification of tumours series, 5th ed.; vol. 8). Available from: https:\/\/tumourclassification.iarc.who.int\/chaptercontent\/36\/18"},{"key":"e_1_3_2_7_2","volume-title":"WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]","author":"Hartmann A","year":"2022","unstructured":"Hartmann A, Gill AJ, He H, et al. Oncocytoma of the kidney. In: WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]. International Agency for Research on Cancer; 2022. [cited 2025 Sep 7]. (WHO classification of tumours series, 5th ed.; vol. 8). Available from: https:\/\/tumourclassification.iarc.who.int\/chaptercontent\/36\/17"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00132.2024"},{"key":"e_1_3_2_9_2","volume-title":"WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]","author":"Hartmann A","year":"2022","unstructured":"Hartmann A, Gill AJ, He H, et al. Other oncocytic tumours of the kidney. In: WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]. International Agency for Research on Cancer; 2022. [cited 2025 Sep 7]. (WHO classification of tumours series, 5th ed.; vol. 8). Available from: https:\/\/tumourclassification.iarc.who.int\/chaptercontent\/36\/204"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-019-0304-y"},{"key":"e_1_3_2_11_2","volume-title":"WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]","author":"Merino MJ","year":"2022","unstructured":"Merino MJ, Cunha IW, Margulis V. Birt-Hogg-Dube syndrome. In: WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]. International Agency for Research on Cancer; 2022. [cited 2025 Sep 7]. (WHO classification of tumours series, 5th ed.; vol. 8). Available from: https:\/\/tumourclassification.iarc.who.int\/chaptercontent\/36\/298"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"e_1_3_2_13_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Sattler EC","unstructured":"Sattler EC, Steinlein OK. Birt-Hogg-Dub\u00e9 syndrome. 2006 Feb 27 [Updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM (eds). GeneReviews\u00ae [Internet]. University of Washington; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1522\/"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji154"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.semdp.2024.01.008"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0163-z"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2025.03.012"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.5489\/cuaj.3798"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13906"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240303"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000228215.32110.89"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.09.005"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-142"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62159"}],"container-title":["International Journal of Surgical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10668969251415520","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10668969251415520","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10668969251415520","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:14:03Z","timestamp":1787739243000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10668969251415520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,13]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1177\/10668969251415520"],"URL":"https:\/\/doi.org\/10.1177\/10668969251415520","relation":{},"ISSN":["1066-8969","1940-2465"],"issn-type":[{"value":"1066-8969","type":"print"},{"value":"1940-2465","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,13]]}}}