The literature data base has been updated with one paper:
Nishii et al. report the case of a 33yr old female presenting with lung cysts and recurrent pneumothoraces. Histopathological analysis of resected lung tissue revealed multiple epithelial cysts and increased vascularisation particularly of sub-pleural cysts. The patient had a germline splicing mutation of FLCN, which causes a skip of exon 6. Western blotting showed an increase of p-mTOR, p-S6, p-AKT, HIF-1a and VEGF proteins and immunostaining revealed strong signals of mTOR signalling molecules in cells lining the cysts. Collectively, these data suggest that FLCN loss leads to an increase in mTOR signalling and HIF-1a-mediated angiogenesis in BHD lung cysts.
This paper is available to download from the BHD Articles Library: Clinical section.
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