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A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome.

Cancer genetics - 1 Aug 2022

Sano Takeshi, Fukui Tomohiro, Makita Noriyuki, Shimizu Kosuke, Kono Jin, Masui Kimihiko, Sato Takuma, Goto Takayuki, Sawada Atsuro, Fujimoto Masakazu, Kojima Fumiyoshi, Torishima Masako, Wada Takahito, Furuya Mitsuko, Ogawa Osamu, Kobayashi Takashi, Akamatsu Shusuke

Abstract excerpt

Birt-Hogg-Dubé syndrome is an autosomal dominant disease caused by germline mutations in the folliculin gene (FLCN), characterized by skin fibrofolliculomas, pulmonary cysts, and multiple renal tumors. We report the case of a 51-year-old woman with multiple bilateral renal tumors resected by bilateral open partial nephrectomy. Following pathological diagnosis of hybrid oncocytic/chromophobe tumors, targeted...

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Identifiers

PMID: 35691222
DOI: 10.1016/j.cancergen.2022.06.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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