ArticleJournal of cancer research and clinical oncology2023
Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.
Article in Journal of cancer research and clinical oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- A novel pathogenic variant in folliculin identified in a Chinese family with BHD syndrome.BMC medical genomics · 2026Article
- Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.Frontiers in medicine · 2025Article
- Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.Translational andrology and urology · 2023Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant tumor syndrome caused by Folliculin (FLCN) gene mutation. The clinical manifestations are diverse, and the renal tumor is the most serious. CASE PRESENTATION: We report the case of a 51-year-old female with multiple space-occupying lesions in both kidneys, as well as bilateral renal cysts and multiple lung cysts. The resected tumors were finally diagnosed as bilateral renal hybrid oncocytic/chromophobe tumor (HOCT) and unilateral chromophobe cell carcinoma. A history of pneumothorax surgery 4 years ago was convinced. All of these strongly suggested the possibility of BHD syndrome. Gene test confirmed a heterozygous germline FLCN nonsense mutation (c.1429C > T, p.Arg477Ter). The patient is still doing well after 20 months of follow-up (cut-off date July 2022).
conclusionThis is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple lung cysts, and confirmed by gene testing. Patients with any combination of one or more of the manifestations should remain alert to the BHD syndrome. Our report will help to deepen the understanding of the clinicopathological features and molecular changes of BHD syndrome.
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