{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T08:07:13Z","timestamp":1790323633900,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["IJU Case Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant disorder characterized by three principal clinical features: cutaneous leiomyomas (cLMs), uterine leiomyomas, and fumarate hydratase (FH)\u2010deficient renal cell carcinoma (RCC). Although 200\u2013300 families have been identified worldwide, its true prevalence remains unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentations<\/jats:title>\n                    <jats:p>\n                      We present three HLRCC cases in which detailed pathological examination raised initial clinical suspicion. Cases 1 and 2 presented with advanced RCC exhibiting diverse morphologies. Case 3 presented with multiple painful cLMs and no renal tumors. All three cases were confirmed via germline genetic testing, which revealed distinct\n                      <jats:italic>FH<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These cases underscore the importance of careful histopathological and immunohistochemical evaluation for the diagnosis of HLRCC. Multidisciplinary discussion integrating clinical, radiological, pathological, and genetic findings is essential for identifying affected families and initiating timely surveillance.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/iju5.70259","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T23:29:51Z","timestamp":1788996591000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pathology\u2010Driven Diagnosis of Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Clinicopathological and Genetic Analysis of Three Cases"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7916-6323","authenticated-orcid":false,"given":"Tomoko","family":"Uchiyama","sequence":"first","affiliation":[{"name":"Department of Diagnostic Pathology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology, Cancer Genomics and Medical Oncology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maiko","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makito","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Urology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Yoshizawa","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology Nara Medical University  Kashihara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2021-207830"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.051633798"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2025.02.032"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.2.199"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3366"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033506"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22905"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-014-9735-2"},{"key":"e_1_2_9_10_1","volume-title":"Urinary and Male Genital Tumours","author":"Ondrej O.","year":"2022"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13014"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000617"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001372"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01486.x"},{"key":"e_1_2_9_15_1","first-page":"1","article-title":"Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)","volume":"21","author":"Furuya M.","year":"2021","journal-title":"Idensei Shuyo"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathol.2024.08.013"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-018-0017-7"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-025-00797-8"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2200900"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000518542"}],"container-title":["IJU Case 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