The literature data base has been updated with four papers:

Basic:

Zhang et al. show that the chemotherapy, Paclitaxel, specifically promotes apoptosis in FLCN-null cells, but not FLCN-expressing lines in both UOK-257 and ACHN isogenic cell lines. Furthermore, autophagy levels increased in FLCN-null cell lines alone in response to Paclitaxel treatment, as measured by increased LC3-II and autophagosome, and reduced p62 levels. Increased autophagic activity seemed to be mediated by increased MEK-ERK signalling. Combined autophagy inhibition, using 3-MA and Beclin-1 siRNA, with Paclitaxel treatment further reduced FLCN-null cell viability. This paper is available to download from the BHD Articles Library: Basic Research.

Clinical:

Yang et al. report the case of a Taiwanese family with Birt-Hogg-Dubé syndrome. Members of the family had lung cysts and episodes of pneumothorax, but no skin or renal lesions were found.

Lencastre et al. report the case of a 43 year old woman who presented in clinic with multiple facial papules. She had a medical history of kidney cancer and a family history of colon cancer and recurrent pneumothoraces. Genetic testing confirmed a diagnosis of BHD. This paper is available to download from the BHD Articles Library: Clinical Research.

Review:

Trotman-Dickenson reviews the epidemiology, clinical symptoms and radiological hallmarks that differentiate Birt-Hogg-Dubé syndrome, lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and lymphocytic interstitial pneumonia.

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