Animal models of BHD can help increase understanding of the disease and identify novel functions for folliculin (Flcn). A new mouse model of BHD-associated renal cell carcinoma (RCC) is reported in Chen et al., (2015)which could also aid the more rapid development and screening of new treatments.
In this mouse model Flcn is specifically knocked out (Flcn-/-) in the kidney proximal tubules via Sglt2-Cre mediated excision. These mice recapitulate several aspects of BHD-RCC: showing initial cyst formation, followed by hyperplasia, microtumours and large tumours (within a year); varied tumour histology characteristic of BHD; and activation of signalling pathways identified in BHD tumours. As the development of tumours in these mice does not depend on a second Flcn hit there is a high penetrance of cysts and tumours, which also develop earlier than tumours in heterozygous mice. This new model could therefore greatly contribute to both the understanding and treatment of BHD.