Familial renal oncocytoma is the occurrence of renal cell carcinoma in two or more individuals in the same family with no evidence of any other hereditary kidney cancer syndrome, i.e. no mutation in any gene known to predispose to RCC.
Signs and symptoms:
- Familial renal oncocytoma has an increased risk of benign renal oncocytomas, which may be multifocal and bilateral.
- RCC of unknown cause may metastasise.
- More than one family member with RCC.
Diagnosis
- The associated gene(s) have not yet been identified. It is very important to find an expert in familial renal cancers if you suspect you may have this condition.
- The physical symptoms may mimic one of the known syndromes but gene tests of all possible candidate genes do not show any of the known mutations. No genetic test available.
Links
Understandably, it can be frustrating to receive a diagnosis which seems to be vague and uncertain. Often individuals with familial renal cell oncocytoma and familial RCC appear like they have BHD syndrome and we have been hearing from a few who seem to have the clinical manifestations of BHD, but who do not have a mutation in the BHD gene (known as Folliculin). In the Personal Stories section, you can read Barbara’s story, a personal example of this situation.
