Birt-Hogg-Dubé syndrome and familial adenomatous polyposis: an association or a coincidence?
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.
Department of Respiratory Medicine, Tokyo Kosei Nenkin Hospital, Japan. s9024@nms.ac.jp
Takeru
T
Kashiwada
Hidefumi
H
Shimizu
Kazuo
K
Tamura
Kuniaki
K
Seyama
Yoshimasa
Y
Horie
Akira
A
Mizoo
D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins