BHD-associated tumours; both common and unique

BHD is associated with a higher risk of renal cell carcinomas however it has also been suggested to be associated with a range of other cancer types.

Iribe et al., 2015 report on immunohistochemcial characterisation of renal cell carcinomas (RCC) from BHD patients. The samples studied included chromophobe RCCs, hybrid oncocytic/chromophobe tumours (HOCT) and clear cell RCCs. The chromophobe RCCs and HOCTs showed a similar immunohistochemcial pattern – S100A1+, Ksp-cadherin+, CD82+, CK7+ and CA-IX – however all the clear cell RCCS were CK7 and CA-IX+. This FLCN-associated immunohistological pattern is similar to that seen in sporadic RCCs. The authors recommend immunohistochemical analysis to confirm clear cell RRC.

Mikesell et al., 2014 report on a case study of characteristic BHD with additional parathyroid tumours. A diagnosis of BHD was confirmed following identification of fibrofolliculomas, pulmonary cysts and a renal mass. A thyroidectomy was carried out after the discovery of subclinical hyperthyroidism and hypercalicemia associated with a toxic multinodular goiter. Analysis of the removed thyroid gland identified a rhabdomyoma resulting from a translocation between 15p and 17p. The authors suggest, based on proximity to the folliculin gene on 17p, that there may be an association between her BHD and the resulting rhabdomyoma.

To find out more the latest version of the database is available to download here and, where appropriate, publications can be found in the article library.

Leave a Reply