BHD Research

Birt-Hogg-Dubé (BHD) syndrome was initially described as a heritable dermatological condition based on the presence of multiple fibrofolliculomas, trichodiscomas and acrochordons in a Canadian kindred (Birt et al., 1977). Now it is known that BHD patients can also develop pulmonary cysts, with an associated risk of pneumothorax, and bilateral, multifocal renal tumours. Due to the … Read more

Renal cell carcinoma (RCC) can be sporadic or associated with inherited mutations. These tumours frequently carry additional genetic abnormalities including copy number variations, deletions and amplifications. Although not all tumours have an altered genetic profile, sporadic RCC subtypes have common cytogenetic patterns. New research from Iribe et al. (2016) assessed several RCC subtypes from BHD … Read more

Clear cell Renal Cell Carcinoma (ccRCC) is frequently associated with the loss of VHL, but gain of chromosome 5q35.3 – which contains the oncogene SQSTM1 – was also found in approximately 70% of tumours (Li et al., 2013). The SQSTM1 protein, p62, is a scaffold protein involved in cellular processes and signalling pathways related to … Read more

Tumour cells can create immunosuppressive microenvironments by hijacking natural mechanisms such as PD-L1 expression to impair T-cell function. Several new immunotherapy treatments target the PD-1/PD-L1 pathway and have produced some long-lasting responses in patients (Motzer et al., 2015) but not all patients respond. High expression of PD-L1 in clear cell RCC (ccRCC) has been shown … Read more

With the end of the year fast approaching, we thought we would use this week’s blog to review the studies we’ve particularly enjoyed writing about. In the spring Iribe et al. characterised the expression patterns in BHD renal tumours with Furuya et al. focusing on FLCN and GPNMB expression. The development of a screening panel … Read more

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic condition caused by mutations in fumarate hydratase (FH). HLRCC patients are at risk of developing type 2 papillary renal cell carcinoma (pRCC2) which typically has an early onset with high metastatic potential. Existing targeted treatments have very limited response rates in both primary and … Read more

Solving the crystal structure of FLCN and subsequent bioinformatics studies identified FLCN, FNIP1 and FNIP2 as DENN-family proteins (Nookala et al., 2012, Zhang et al., 2012). The yeast orthologues of FLCN and FNIP1/2 are proposed to be Lst7 and Lst4 respectively. Pacitto et al. (2015) have now solved the crystal structure of Kluyveromyces lactis Lst4, … Read more

As discussed in our blog post from the beginning of this year a greater level of BHD awareness among pulmonologists and associated professionals could help increase early diagnoses. It has been reported that up to 10% of spontaneous pneumothorax patients are carrying FLCN mutations (Ren et al., 2008, Johannesma et al., 2015, Ding et al., … Read more

Tumour biomarkers are measurable changes in cancer cells that could be used to improve available therapies. The identification of early biomarkers could increase early diagnosis rates and provide insight into tumour biology including aggressiveness. In addition tumour subtype-specific biomarkers could help identify the treatments most likely to be effective and also be used to measure … Read more

Kidney tumours, if detected early enough, can often be removed surgically without the need for further drug treatments. However, if the primary tumour metastasises traditional chemotherapies and radiotherapies become ineffective and patient survival is limited. In recent years there have been great advances in treatments for metastatic renal cell carcinoma (mRCC) with several targeted treatments … Read more