{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:25:59Z","timestamp":1787761559516,"version":"build-2784847793"},"reference-count":31,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Int J Surg Pathol"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>\n                    Birt-Hogg-Dub\u00e9 (BHD) syndrome is a rare autosomal dominant disorder caused by germline alterations in the\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    gene. We report a 38-year-old man with BHD syndrome presenting with multiple rare pathologic findings involving various organs, including adrenal cortical carcinoma (ACC). Initially, he presented with severe cholestatic jaundice and was found to have a 25\u2005cm left adrenal mass with radiologic evidence of lung metastases, which was diagnosed as ACC on resection. Concurrently, pigmented, bile-stained granular casts were present within the kidney and diffuse cholestasis of the liver consistent with Stauffer syndrome was identified. Subsequent staging workup detected a 1.2\u2005cm tubulovillous adenoma in the distal ascending colon and an incidental 1.2\u2005cm thyroid nodule. Germline genetic testing revealed a pathogenic\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    c.1285dup. Targeted DNA next generation sequencing of ACC revealed\n                    <jats:italic toggle=\"yes\">FLCN<\/jats:italic>\n                    c.1285dup,\n                    <jats:italic toggle=\"yes\">IDH2<\/jats:italic>\n                    c.5332C&gt;T,\n                    <jats:italic toggle=\"yes\">PRKAR1A<\/jats:italic>\n                    c.1074del, and\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    c.3282C&gt;A and concurrent transcriptomic analysis demonstrated\n                    <jats:italic toggle=\"yes\">VEGFA<\/jats:italic>\n                    overexpression. Fourteen months after resection, follow-up computerized tomography (CT) identified the progression of lung metastases and chemotherapy with etoposide doxorubicin and cisplatin was initiated. Here, we report the first ACC with the molecular characteristics in a BHD syndrome patient, although 5 adrenal lesions, including ACC, adenomas or neoplasm with malignant potential due to higher Ki67 labelling index, have been reported in the literature and no somatic analysis in these tumors were performed. Despite the rarity, our case potentially expands the tumor spectrum of BHD patients, helps to solidify possible association with adrenal cortical tumors and reiterates the value of genetic counseling in patients with ACC.\n                  <\/jats:p>","DOI":"10.1177\/10668969221117246","type":"journal-article","created":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T02:32:08Z","timestamp":1660098728000},"page":"689-694","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Adrenal Cortical Carcinoma and Additional Rare Pathologic Findings in Multi-Organs in a Birt-Hogg-Dub\u00e9 Syndrome Patient: With an Emphasis on the Molecular Characteristics of Adrenal Cortical Carcinoma"],"prefix":"10.1177","volume":"31","author":[{"given":"David","family":"Kim","sequence":"first","affiliation":[{"name":"UT Southwestern Medical"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natia","family":"Murvelashvili","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oksana","family":"Hamidi","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2118-6428","authenticated-orcid":false,"given":"Liwei","family":"Jia","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/323744"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800152"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.14740\/jocmr3503w"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2008.10.008"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.12.008"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12292"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09517.x"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2012.05742.x"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001715"},{"issue":"2","key":"e_1_3_2_12_2","first-page":"203","article-title":"A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome","volume":"25","author":"De Keyzer L","year":"2014","unstructured":"De Keyzer L, De Leenheer EMR, Claes K, Janssens S. A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome. Genet Couns. 2014;25(2):203-208.","journal-title":"Genet Couns"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-020-02970-2"},{"issue":"1","key":"e_1_3_2_14_2","first-page":"49","article-title":"Birt-Hogg-Dube Syndrome and coexistence with adrenocortical carcinoma","volume":"25","author":"Kalloniati E","year":"2021","unstructured":"Kalloniati E, Antoniades E, Athanasouli F. Birt-Hogg-Dube Syndrome and coexistence with adrenocortical carcinoma. Hippokratia. 2021;25(1):49.","journal-title":"Hippokratia"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070565"},{"key":"e_1_3_2_16_2","article-title":"A large adrenal tumour as a phenotypic manifestation of the Birt\u2013Hogg\u2013Dube syndrome","volume":"26","author":"Juszczak A","year":"2011","unstructured":"Juszczak A, Halliday D, Mihai R, Ali A, et al. A large adrenal tumour as a phenotypic manifestation of the Birt\u2013Hogg\u2013Dube syndrome. 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