The BHD Literature Database has been updated with two papers.
Kim et al described a novel in-frame deletion mutation in exon 6 of FLCN. The mutation was identified in a 40 year-old woman who presented with spontaneous pneumothorax and skin lesions. Immediate family members were also identified with history of spontaneous pneumothorax and renal cancer.
Shuch et al reported on the potential of targeted mTOR therapies for metastatic chromophobe renal cell carcinoma (RCC). The authors presented a case study of a patient receiving temsirolimus treatment as well as a review of published reports on mTOR agents. Shuch et al concluded that there is preliminary support for evaluation of these agents in chromophobe RCC.
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Shuch et al is freely available to download in the BHD Article Library: Clinical section.