Mutated mTOR regulator RRAGC proteins decrease interactions with FLCN

Follicular lymphoma is a B-cell lymphoma that remains incurable with conventional therapies. Ying et al. (2016) present a new study exploring the biological and genetic features of follicular lymphoma and identifying potential new therapeutic targets. The authors identify recurrent mutations in the mTOR regulator RRAGC, a small G-protein, in approximately 10% of follicular lymphoma cases. … Read more

RCC clinical trials: positive results and new phase III clinical study

Renal cell carcinoma (RCC) is by far the most common type of kidney cancer and it can be caused by genetic conditions such as BHD (Randall et al., 2014). BHD patients can develop multiple kidney tumours.  In most cases these tumours can be surgically removed.  However, surgery and traditional chemotherapies can leave patients with reduced renal function … Read more

Two recent case reports on BHD–Epidemiologic study of patients in Asia and new FLCN mutation

Furuya et al. (2016) present a new study describing genetic, epidemiologic and clinicopathologic features of 312 Asian individuals with BHD manifestations based on data from 120 probands from different families (119 Japanese and 1 Taiwanese), 36 siblingss with genetic testing and 156 siblings without genetic testing. Among the 120 probands that were grouped as ‘Possible … Read more

Lack of Tsc2 in Mesenchymal Cells Causes Kidney Cysts and Defective Lung Alveolarization

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that shares clinical similarities with BHD. TSC results from germline mutations in the Tsc1 or Tsc2 gene, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma can occur. In the lung, patients can develop multifocal micronodular pneumocyte … Read more

Chest CT in patients with spontaneous pneumothorax is cost-effective

Patients that present with a spontaneous pneumothorax (SP) without a known medical history of lung disease are usually diagnosed as primary spontaneous pneumothorax – a pneumothorax that occurs without underlying diseases. However, underlying diffuse cystic lung diseases such as Birt-Hogg-Dube syndrome (BHD), lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) may have a spontaneous pneumothorax … Read more

Cilia Conference 2016

The EMBO conference on Cilia 2016, ‘from fundamental biology to human disease’ was held last week over four days in Amsterdam, The Netherlands. The conference brought together ciliopathy patients, clinicians, and researchers to promote collaboration, create awareness and to discuss the latest developments in research of cilia and ciliopathies. Cilia are microtubule-based organelles that protrude … Read more

Highlights from the RLDC 2016 Cincinnati Conference

As mentioned in last week’s blog, the International Rare Lung Diseases Research Conference (RLDC) was held in Cincinnati, USA, 22nd-25th September. Clinicians, scientists, patient organizations, patients and families were brought together to discuss research and clinical trials in rare lung disease and to promote dialogue between the research community and patients. It is increasingly clear that … Read more

BHD at the International Rare Lung Diseases Research Conference 2016

The International Rare Lung Diseases Research Conference (RLDC) and LAM symposium were held last week over four days.  They brought together clinicians, scientists, patients and families to Cincinnati to review research developments in rare lung disease and to promote dialogue between the research community and patients. Next week’s blog will focus on the highlights of … Read more

PD-L1 expression associates with non-inactivated VHL ccRCC

The loss of the of the tumor suppressor gene VHL and the subsequent deregulation of VHL/HIF/VEGF signalling are known to play a role in development of clear cell renal cell carcinoma (ccRCC). Renal tumours associated with BHD syndrome are histologically diverse and include a percentage of ccRCC (Pavlovich et al., 2002). Anti-angiogenic therapies targeting the … Read more

Air travel and diving possibly increase risk of pneumothorax in BHD patients

Birt–Hogg–Dubé syndrome is caused by germline mutations in the FLCN gene and characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax (SP) and renal cancer.  Because sudden changes in air pressure can increase the chances of developing a collapsed lung, a concern many BHD patients have is whether it is safe to air travel and scuba … Read more

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