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.

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