Role of BHD gene in the development of pulmonary cysts and cancer : A molecular-pathological analysis

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Thirteen patients from 10 families underwent genetic analysis of the folliculin gene and were diagnosed as suffering from Birt-Hogg-Dube (BHD) syndrome ; of these, pulmonary cysts resected surgically in 9 patients were studied histopathologically, immunohistochemically and molecular-pathologically. The results suggested the BHD syndrome-associated lung cyst may be a hamartoma-like aberrant cystic alveolar formation possibly caused by mild activation of the mTOR pathway under haploinsufficiency of folliculin.