Kashiwada Takeru, Shimizu Hidefumi, Tamura Kazuo, Seyama Kuniaki, Horie Yoshimasa, Mizoo Akira
Department of Respiratory Medicine, Tokyo Kosei Nenkin Hospital, Japan.
Intern Med. 2012;51(13):1789-92. doi: 10.2169/internalmedicine.51.7239. Epub 2012 Jul 1.
An association between Birt-Hogg-Dubé syndrome (BHDS) and colon cancer remains conjectural, but herein we describe a case who may illustrate a significant link between them. The 60-year-old woman was diagnosed at 28 years of age with colon carcinoma and familial adenomatous polyposis (FAP). She also had repeated pneumothoraces, and was diagnosed with BHDS following the finding of pneumothorax in her son. We confirmed the presence of germline mutations in both her folliculin (FLCN) and adenomatous polyposis coli (APC) genes. The family pedigree suggested that a de novo FLCN mutation might have contributed to the development of colon carcinoma at a younger age than her family members.
Birt-Hogg-Dubé综合征（BHDS）与结肠癌之间的关联仍属推测，但在此我们描述了一个病例，该病例可能说明了它们之间的重要联系。这位60岁女性在28岁时被诊断患有结肠癌和家族性腺瘤性息肉病（FAP）。她还反复发生气胸，在其儿子也被发现患有气胸后，她被诊断为BHDS。我们证实了她的卵泡抑素（FLCN）基因和腺瘤性息肉病（APC）基因均存在种系突变。家族谱系表明，一个新发的FLCN突变可能促使她比家族其他成员更年轻时就患上了结肠癌。
