NACC1 Fusion Hepatic Carcinoma
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved..
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 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-positive hepatic neoplasms harboring a NIPBL::NACC1 fusion and the first WGS analysis of these tumors. We propose to name this neoplasm NIPBL:NACC1 fusion hepatic carcinoma.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:48 |
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| Enthalten in: |
The American journal of surgical pathology - 48(2024), 2 vom: 01. Jan., Seite 183-193 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Hissong, Erika [VerfasserIn] |
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| Links: |
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| Themen: |
57285-09-3 |
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| Anmerkungen: |
Date Completed 24.01.2024 Date Revised 24.01.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1097/PAS.0000000000002159 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM365383600 |
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| 100 | 1 | |a Hissong, Erika |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a NIPBL::NACC1 Fusion Hepatic Carcinoma |
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| 500 | |a Date Completed 24.01.2024 | ||
| 500 | |a Date Revised 24.01.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved. | ||
| 520 | |a 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 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-positive hepatic neoplasms harboring a NIPBL::NACC1 fusion and the first WGS analysis of these tumors. We propose to name this neoplasm NIPBL:NACC1 fusion hepatic carcinoma | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Inhibins |2 NLM | |
| 650 | 7 | |a 57285-09-3 |2 NLM | |
| 650 | 7 | |a Biomarkers, Tumor |2 NLM | |
| 650 | 7 | |a NIPBL protein, human |2 NLM | |
| 650 | 7 | |a Cell Cycle Proteins |2 NLM | |
| 650 | 7 | |a NACC1 protein, human |2 NLM | |
| 650 | 7 | |a Neoplasm Proteins |2 NLM | |
| 650 | 7 | |a Repressor Proteins |2 NLM | |
| 700 | 1 | |a Al Assaad, Majd |e verfasserin |4 aut | |
| 700 | 1 | |a Bal, Munita |e verfasserin |4 aut | |
| 700 | 1 | |a Reed, Katelyn A |e verfasserin |4 aut | |
| 700 | 1 | |a Fornelli, Adele |e verfasserin |4 aut | |
| 700 | 1 | |a Levine, Max F |e verfasserin |4 aut | |
| 700 | 1 | |a Gundem, Gunes |e verfasserin |4 aut | |
| 700 | 1 | |a Semaan, Alissa |e verfasserin |4 aut | |
| 700 | 1 | |a Orr, Christine E |e verfasserin |4 aut | |
| 700 | 1 | |a Sakhadeo, Uma |e verfasserin |4 aut | |
| 700 | 1 | |a Manohar, Jyothi |e verfasserin |4 aut | |
| 700 | 1 | |a Sigouros, Michael |e verfasserin |4 aut | |
| 700 | 1 | |a Wilkes, David |e verfasserin |4 aut | |
| 700 | 1 | |a Sboner, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Montgomery, Elizabeth A |e verfasserin |4 aut | |
| 700 | 1 | |a Graham, Rondell P |e verfasserin |4 aut | |
| 700 | 1 | |a Medina-Martínez, Juan S |e verfasserin |4 aut | |
| 700 | 1 | |a Robine, Nicolas |e verfasserin |4 aut | |
| 700 | 1 | |a Fang, Jiayun M |e verfasserin |4 aut | |
| 700 | 1 | |a Choi, Eun-Young K |e verfasserin |4 aut | |
| 700 | 1 | |a Westerhoff, Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Delgado-de la Mora, Jesús |e verfasserin |4 aut | |
| 700 | 1 | |a Caudell, Patricia |e verfasserin |4 aut | |
| 700 | 1 | |a Yantiss, Rhonda K |e verfasserin |4 aut | |
| 700 | 1 | |a Papaemmanuil, Elli |e verfasserin |4 aut | |
| 700 | 1 | |a Elemento, Olivier |e verfasserin |4 aut | |
| 700 | 1 | |a Sigel, Carlie |e verfasserin |4 aut | |
| 700 | 1 | |a Jessurun, José |e verfasserin |4 aut | |
| 700 | 1 | |a Mosquera, Juan Miguel |e verfasserin |4 aut | |
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