{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:13:47Z","timestamp":1793261627758,"version":"4.5.0"},"reference-count":54,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Several reports describing a rare primary liver tumor with histologic features reminiscent of follicular thyroid neoplasms have been published under a variety of descriptive terms including thyroid-like, solid tubulocystic, and cholangioblastic cholangiocarcinoma. Although these tumors are considered to represent histologic variants, they lack classic features of cholangiocarcinoma and have unique characteristics, namely immunoreactivity for inhibin and <jats:italic toggle=\"yes\">NIPBL::NACC1<\/jats:italic> fusions. The purpose of this study is to present clinicopathologic and molecular data for a large series of these tumors to better understand their pathogenesis. We identified 11 hepatic tumors with these features. Immunohistochemical and <jats:italic toggle=\"yes\">NACC1<\/jats:italic> and <jats:italic toggle=\"yes\">NIPBL<\/jats:italic> fluorescence in situ hybridization assays were performed on all cases. Four cases had available material for whole-genome sequencing (WGS) analysis. Most patients were adult women (mean age: 42\u00a0y) who presented with abdominal pain and large hepatic masses (mean size: 14\u00a0cm). Ten patients had no known liver disease. Of the patients with follow-up information, 3\/9 (33%) pursued aggressive behavior. All tumors were composed of bland cuboidal cells with follicular and solid\/trabecular growth patterns in various combinations, were immunoreactive for inhibin, showed albumin mRNA by in situ hybridization, and harbored the <jats:italic toggle=\"yes\">NIPBL::NACC1<\/jats:italic> fusion by fluorescence in situ hybridization. WGS corroborated the presence of the fusion in all 4 tested cases, high tumor mutational burden in 2 cases, and over 30 structural variants per case in 3 sequenced tumors. The cases lacked mutations typical of conventional intrahepatic cholangiocarcinoma. In this report, we describe the largest series of primary inhibin\u2013positive hepatic neoplasms harboring a <jats:italic toggle=\"yes\">NIPBL::NACC1<\/jats:italic> fusion and the first WGS analysis of these tumors. We propose to name this neoplasm <jats:italic toggle=\"yes\">NIPBL:NACC1<\/jats:italic> fusion hepatic carcinoma.<\/jats:p>","DOI":"10.1097\/pas.0000000000002159","type":"journal-article","created":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T11:00:05Z","timestamp":1701687605000},"page":"183-193","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":24,"title":["NIPBL::NACC1 Fusion Hepatic Carcinoma"],"prefix":"10.1097","volume":"48","author":[{"given":"Erika","family":"Hissong","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Weill Cornell Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majd","family":"Al Assaad","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Weill Cornell Medicine"},{"name":"Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine and New York Presbyterian"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munita","family":"Bal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Tata Memorial Centre, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelyn A.","family":"Reed","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Fornelli","sequence":"additional","affiliation":[{"name":"U.O. 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