Liver‐specific DICER1 syndrome model mice develop cystic liver tumors with defective primary cilia

• DOI: 10.1002/path.6320
• Publication Date: 2024-06-26T08:21:23Z
• Authors: Keiki Oikawa; Shin‐ichiro Ohno; Kana Ono; Kaito Hirao; Ayano Murakami; Yuichirou Harada; Katsuyoshi Kumagai; Katsuko Sudo; Masakatsu Takanashi; Akio Ishikawa; Shouichirou Mineo; Koji Fujita; Tomohiro Umezu; Noriko Watanabe; Yoshiki Murakami; Shinichiro Ogawa; Kris Ann Schultz; Masahiko Kuroda
• Keywords: Congenital hepatic fibrosis; Intrahepatic bile ducts; Pathogenesis; Cholangiocyte

DICER1 syndrome is a tumor predisposition caused by familial genetic mutations in DICER1. Pathogenic variants of have been discovered many rare cancers, including cystic liver tumors. However, the molecular mechanisms underlying lesions induced these remain unclear. In present study, we sought to gain better understanding pathogenesis generating mouse model liver-specific syndrome. The developed bile duct hyperplasia with fibrosis, similar congenital hepatic as well tumors resembling those Caroli's syndrome, intrahepatic cholangiocarcinoma, and hepatocellular carcinoma. Interestingly, showed abnormal formation primary cilia epithelium, which known cause cyst formation. These results indicated that contribute inducing defective cilia. generated this study will be useful for elucidating potential tumorigenesis obtaining comprehensive © 2024 Pathological Society Great Britain Ireland.