The BHD Literature Database has been updated with 3 papers:
Johannesma et al., 2014d provide an initial natural history of Birt-Hogg-Dubé lung cysts based on the follow up of six patients. They conclude that, unlike other cystic lung diseases, BHD is unlikely to be a progressive degenerative disease. Additionally, they hypothesise that loss of FLCN in the epithelial cells lining cysts means they are less able to stretch under mechanical stresses caused by respiration. This causes cysts, and possibly the overlaying visceral pleura, to burst, allowing air to build up in the pleural space and causing a pneumothorax. The authors suggest that pleurectomy combined with chemical pleurodesis should reduce the recurrence of pneumothoraces in BHD patients, but that this treatment approach should be tested in a phase II multicenter clinical trial.
Johannesma et al., 2014e assessed the number, location, distribution, diameter, and shape of lung cysts in 18 BHD patients with a history of recurrent pneumothoraces, and 27 BHD patients with no history of pneumothorax. They found that pneumothorax was strongly correlated with the number of cysts, but not with any other characteristics analysed in this study.
Sirintrapun et al. describe the case of a 74 year old man who presented with metastatic renal cancer. Molecular analysis showed that roughly a third of the primary tumour consisted of benign oncocytic cells while the remaining two thirds of the tumour was a high grade oncocytic carcinoma. Genetic and expression profiling revealed that both parts of the tumour had a common origin, indicating that the benign oncocytoma gave rise to the high grade tumour. A number of genomic rearrangements were present in the high grade cells only, including heterozygous loss of 17p, suggesting that loss of FLCN may be partly responsible for the progression of disease in this patient. The patient did not carry a germline FLCN mutation. Thus, the authors report a rare case of somatic FLCN mutation contributing to a sporadic case of renal cell carcinoma, and the first known case of a benign oncocytoma transforming to a high grade carcinoma. This paper is freely available to download from the BHD Articles Library: Clinical Research.
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