doi: 10.1186/s40880-016-0172-5

Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome

Teng Li, Xianghui Ning, Qun He and Kan Gong

Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University

[Abstract] Birt–Hogg–Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG in exon 9 and c.770-772delCCT in exon 7). Both of them had RCC and spontaneous pneumothorax without fibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts (pneumothorax).

Chinese Journal of Cancer 2017, Volume: 36, Issue 2

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Teng Li, Xianghui Ning, Qun He and Kan Gong. Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome. Chin J Cancer. 2017, 36:4. doi:10.1186/s40880-016-0172-5


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