Open AccessNovel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
Author(s) -
Li Teng,
Ning Xianghui,
He Qun,
Gong Kan
Publication year - 2017
Publication title -
cancer communications
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.119
H-Index - 53
ISSN - 2523-3548
DOI - 10.1186/s40880-016-0172-5
Subject(s) - folliculin , birt–hogg–dubé syndrome , pneumothorax , medicine , germline mutation , exon , germline , renal cell carcinoma , mutation , pathology , cancer research , gene , genetics , biology , surgery
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).