The BHD literature database has been updated with 3 papers:
Benusiglio et al. (2014) report the renal cell tumour characteristics of a cohort of 33 BHD patients with renal tumours. The median age at the diagnosis of the first tumour was 46, with an age range of 20 – 83. Whilst the majority of patients had a solitary tumour at diagnosis, four patients (12%) had two tumours, and nine patients (27%) presented with multifocal disease. Pathology reports were available for all but five patients, and, as expected, the majority of tumours (23/33, or 70%) were of oncocytic or hybrid oncocytic/ choromophobe histology. However, one patient had a papillary RCC, one had an undifferentiated RCC, and 3 patients (9%) had clear cell RCC. Four patients had metastatic disease at diagnosis, but all survived more than 5 years after being diagnosed with metastatic disease, indicating that even when BHD renal tumours metastasise, they are less clinically aggressive than other forms of metastatic renal cancer.
This study was partly funded by the Myrovlytis Trust and is freely available to download from the BHD Articles Library: Clinical Research.
Yamada et al. (2014) report the case of a 45 year old woman with a medical history of multiple lung cysts, spontaneous pneumothorax and multiple left renal tumours. The patient underwent nephrectomy for the renal tumours in 1997, and pathological analysis identified the tumour as a granular cell renal carcinoma. Seven years following surgery, the patient develop four tumours in the right kidney. The patient also underwent a thyroidectomy for thyroid cancer. The patient was found to have a family history of renal cancer, and genetic testing confirmed a diagnosis of BHD. The histology of the granular cell tumours was reanalyzed, and this tumour was found to be a hybrid oncocytic/ chromophobe tumour characteristic of the syndrome.
There is an editorial comment on this study by Kuroda (2014c).
To find out more, the latest version of the database is available to download here.