title: Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities.
abstract: A 65-year-old Japanese woman was introduced to our hospital for an examination of multiple pulmonary cystic lesions and a pulmonary nodule in the left lower lobe. She had a smoking history of 25 pack-years, and her two younger brothers had suffered from pneumothorax; one of them additionally had lung cancer with pulmonary multiple cystic lesions. A surgical biopsy specimen obtained from her left lower lobe revealed adenocarcinoma surrounded by a single epithelial layer that was covered with collagen fibers. The pathological features were compatible with the findings of the cystic lesions in the patients with Birt-Hogg-Dubé syndrome (BHDS). A diagnosis of BHDS was eventually made according to the detection of a folliculin gene mutation. This is the first report of a possible familial case of BHDS complicated with primary lung cancer. We herein reviewed the previously reported cases of BHDS with lung cancer and other tumors and discussed a potential mechanism of tumorigenesis and carcinogenesis in the lung in the patients with BHDS.
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Chinatsu
authors.initials: C
authors.lastname: Nishida
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan. Electronic address: yatera@med.uoeh-u.ac.jp.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yatera
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Yamasaki
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Torii
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kawanami
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Toshinori
authors.initials: T
authors.lastname: Kawanami
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ishimoto
authors.affiliation: Department of Pathology and Oncology, University of Occupational and Environmental Health, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Shibuya
authors.affiliation: Second Department of Surgery, University of Occupational and Environmental Health, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Takenaka
authors.affiliation: Department of Pathology and Cell Biology, University of Occupational and Environmental Health, Japan.
authors.forename: Sohusuke
authors.initials: S
authors.lastname: Yamada
authors.affiliation: Department of Laboratory Medicine and Pathology, National Hospital Organization Kinki-Chuo Medical Center, Japan.
authors.forename: Takahiko
authors.initials: T
authors.lastname: Kasai
authors.affiliation: Second Department of Surgery, University of Occupational and Environmental Health, Japan.
authors.forename: Fumihiro
authors.initials: F
authors.lastname: Tanaka
authors.affiliation: Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mukae
mesh_terms: D000368:Aged; D001706:Biopsy; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001999:Bronchoscopy; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D008168:Lung / Q000473:pathology; D008175:Lung Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm; C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt–Hogg–Dubé syndrome; Carcinogenesis; Folliculin; Lung cancer; Pulmonary cyst