NIPBL::NACC1 Fusion Hepatic Carcinoma

作者：Erika Hissong, Majd Al Assaad, Munita Bal, Katelyn A. Reed, Adele Fornelli, Max F. Levine, Gunes Gundem, Alissa Semaan, Christine Orr, Uma Sakhadeo, Jyothi Manohar, Michael Sigouros, David Wilkes, Andrea Sboner, Elizabeth A. Montgomery, Rondell P. Graham, Juan S. Medina-Martínez, Nicolas Robine, Jiayun M. Fang, Eun-Young Choi, Maria Westerhoff, Jesús Delgado-de la Mora, Patricia Caudell, Rhonda K. Yantiss, Elli Papaemmanuil, Olivier Elemento, Carlie Sigel, José Jessurun, Juan Miguel Mosquera · 发表于：The American Journal of Surgical Pathology · 年份：2023 · DOI：10.1097/pas.0000000000002159 · 被引用次数：22 · 研究领域：Cholangiocarcinoma and Gallbladder Cancer Studies、RNA modifications and cancer、Genetic factors in colorectal cancer

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 NIPBL::NACC1 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 NACC1 and NIPBL 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 y) who presented with abdominal pain and large hepatic masses (mean size: 14 cm). 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 NIPBL::NACC1 fusion by fluorescence in situ hybridization. WGS corroborated the presence of the fusion in all 4 tested cases, high tumor mutational bur...