Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma

• DOI: 10.1016/j.ebiom.2023.104596
• Publication Date: 2023-05-12T16:34:29Z
• Authors: Ryosuke Jikuya; Todd A. Johnson; Kazuhiro Maejima; Jisong An; Young-Seok Ju; Hwajin Lee; Kyungsik Ha; WooJeung Song; Youngwook Kim; Yuki Okawa; Shota Sasagawa; Yuki Kanazashi; Masashi Fujita; Seiya Imoto; Taku Mitome; Shinji Ohtake; Go Noguchi; Sachi Kawaura; Yasuhiro Iribe; Kota Aomori; Tomoyuki Tatenuma; Mitsuru Komeya; Hiroki Ito; Yusuke Ito; Kentaro Muraoka; Mitsuko Furuya; Ikuma Kato; Satoshi Fujii; Haruka Hamanoue; Tomohiko Tamura; Masaya Baba; Toshio Suda; Tatsuhiko Kodama; Kazuhide Makiyama; Masahiro Yao; Brian M. Shuch; Christopher J. Ri...; Laura S. Schmidt; W. Marston Linehan; Hidewaki Nakagawa; Hisashi Hasumi
• Keywords: Folliculin; Chromophobe cell; Kidney cancer

Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics these similar histological types tumours have been incompletely elucidated.