Birt-Hogg-Dubé Syndrome and Familial Adenomatous Polyposis: An Association or a Coincidence?
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概要
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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 novoFLCN mutation might have contributed to the development of colon carcinoma at a younger age than her family members.
著者
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Seyama Kuniaki
Department Of Respiratory Medicine
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Mizoo Akira
Department Of Chest Medicine
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Horie Yoshimasa
Department Of Precision Science And Technology Osaka University
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Tamura Kazuo
Department Of Hematology Harasanshin General Hospital
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Shimizu Hidefumi
Department Of Respirology Graduate School Of Medicine Chiba University
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Mizoo Akira
Department of Respiratory Medicine, Tokyo Kosei Nenkin Hospital, Japan
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Kashiwada Takeru
Department of Respiratory Medicine, Tokyo Kosei Nenkin Hospital, Japan
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