The BHD Literature Database has been updated with a pathological study of BHD-associated pulmonary cysts in 11 individuals from 9 families.
The researchers found that the inner walls of BHD-associated cysts are lined with epithelial cells, and that many of the cysts exhibited internal septa or alveoli within an alveolus. Additionally, positive staining for phospho-S6 ribosomal protein expression pointed to activation of the mTOR pathway. The authors concluded by suggesting that BHD-associated cysts may be considered hamartoma-like cystic alveolar formations associated with disregulated mTOR signalling.
To find out more, download the latest version of the database here.